Test category
Genetic Testing
Available Tests
BRAF Mutation Analysis Test
The BRAF Mutation Analysis Test identifies specific genetic changes in the BRAF gene, often linked to cancers like melanoma and colorectal cancer. This information helps doctors choose the most effective treatment.
JAK 2 Mutation Detection Qualitative PCR Test
The JAK 2 Mutation Detection Qualitative PCR Test identifies specific mutations in the JAK2 gene, often linked to blood cancers like myeloproliferative neoplasms. This test helps guide treatment decisions.
Oncomine Chronic Myelomonocytic Leukemia CMML Panel Test
The Oncomine Chronic Myelomonocytic Leukemia (CMML) Panel Test identifies genetic mutations associated with CMML, aiding in diagnosis, prognosis, and treatment planning. Confirm with the laboratory before booking.
Succinylacetone Urine Test
The Succinylacetone Urine Test helps detect metabolic disorders, particularly Tyrosinemia Type I, by measuring succinylacetone levels in urine. Essential for early diagnosis in children.
FBN1 Gene Ectopia Lentis Familial Genetic Test
Genetic test to identify mutations in the FBN1 gene associated with ectopia lentis (dislocated lens). Helps assess risk for related eye conditions.
PRX Gene Dejerine-Sottas Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PRX gene associated with Dejerine-Sottas disease, a rare neurological disorder.
NUBPL Gene Leigh Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NUBPL gene associated with Leigh syndrome. Helps diagnose and understand this neurological disorder.
PABPN1 Gene Muscular Dystrophy Oculopharyngeal Genetic Test
This genetic test identifies mutations in the PABPN1 gene associated with oculopharyngeal muscular dystrophy (OPMD). It helps diagnose the condition, particularly in individuals with a family history or relevant symptoms.
TECPR2 Gene SPG49 Genetic Test
The TECPR2 Gene SPG49 NGS Genetic DNA Test uses Next Generation Sequencing (NGS) to analyze the TECPR2 gene, helping identify genetic variations linked to certain neurological disorders. This test can provide valuable information for individuals with a family history or symptoms suggestive of related conditions.
LPA Gene Coronary Artery Disease Susceptibility to Genetic Test
This genetic test assesses your individual risk for coronary artery disease (CAD) by analysing variations in the LPA gene. Understanding your genetic predisposition can help inform preventive health strategies.
MMAB Gene Methylmalonic Aciduria CblB Type Genetic Test
Genetic test to identify mutations in the MMAB gene associated with Methylmalonic aciduria (CblB type), a metabolic disorder. Aids in diagnosis and management.
Comprehensive Immuno Panel Genetic Test
The Comprehensive Immuno Panel NGS Genetic DNA Test uses advanced Next Generation Sequencing (NGS) technology to analyze genetic variations associated with immune system function. This test helps identify potential genetic predispositions to immunological disorders, aiding in diagnosis and personalized treatment planning.
TNFRSF13B Gene Immunodeficiency Common Variable Type 2 Genetic Test
Genetic test to identify mutations in the TNFRSF13B gene associated with Common Variable Immunodeficiency (CVID), aiding in the diagnosis of immunodeficiency disorders.
KCNE3 Gene Brugada Syndrome Type 6 Genetic Test
Genetic test to identify mutations in the KCNE3 gene associated with Brugada syndrome, a condition affecting heart rhythm. Helps assess risk for individuals with a family history or symptoms.
NNT Gene Glucocorticoid Deficiency Type 4 with or without Mineralocorticoid Deficiency Genetic Test
Genetic test to identify mutations in the NNT gene, associated with Glucocorticoid Deficiency Type 4, which can affect hormone production. Suitable for individuals with symptoms or family history of related endocrine disorders.
TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency Genetic Test
Genetic test to identify mutations in the TPI1 gene, which can cause hemolytic anemia. This test uses Next Generation Sequencing (NGS) technology to analyze DNA.
TP63 Gene Limbmammary Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TP63 gene associated with limb abnormalities and dysmorphology. Helps in diagnosing Limbmammary Syndrome and related conditions.
MUTYH Gene Familial Adenomatous Polyposis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MUTYH gene for mutations associated with an increased risk of Familial Adenomatous Polyposis Type 2 (MAP) and colorectal cancer.
Hemochromatosis Common Mutation Analysis in HFE Gene H63D S61C C282Y
Genetic test to identify common mutations (H63D, S61C, C282Y) in the HFE gene associated with hereditary hemochromatosis, a condition causing iron overload. Confirm with the laboratory before booking.
Bordetella Multiplex Bordetella Pertussis, Legionella Pneumophilia, Klabsiella Pneumonia Detection & Differentiation RNA Detection Qualitative Test
A molecular test using Real Time PCR to detect and differentiate RNA from Bordetella Pertussis, Legionella Pneumophilia, and Klabsiella Pneumonia, aiding in the diagnosis of respiratory infections.
Mitochondrial Genome Sequencing
Mitochondrial Genome Sequencing analyzes mitochondrial DNA to identify mutations linked to various genetic disorders. This test provides valuable insights for individuals with unexplained symptoms or a family history of mitochondrial diseases.
JAK 2 V617F Reflex to JAK 2 Exon 12 Mutation Detection Test
The JAK 2 V617F Reflex to JAK 2 Exon 12 Mutation Detection Test helps identify specific genetic mutations in the JAK2 gene, often linked to certain blood cancers like polycythemia vera and essential thrombocythemia. This information aids oncologists in diagnosis and treatment planning.
Oncomine Comprehensive Myeloid Panel Test
The Oncomine Comprehensive Myeloid Panel Test uses advanced genetic sequencing to detect mutations linked to myeloid malignancies like leukemia. This comprehensive analysis helps guide personalized treatment plans.
LOXL1 Gene Exfoliation Syndrome Susceptibility to Genetic Test
This genetic test assesses your risk for exfoliation syndrome, a major risk factor for glaucoma. Understanding your genetic predisposition can help manage eye health.
ITM2B Gene Dementia Familial British Type Genetic Test
Genetic test for mutations in the ITM2B gene associated with Familial British Dementia. Uses Next Generation Sequencing (NGS) to assess genetic risk. Recommended for individuals with symptoms or a family history of dementia.
SDHA Gene Leigh Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SDHA gene associated with Leigh syndrome, a severe neurological disorder. Confirm with the laboratory before booking.
B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test
Genetic test for mutations in the B4GAT1 gene, associated with congenital muscular dystrophy-dystroglycanopathy involving brain and eye anomalies. Uses Next-Generation Sequencing (NGS).
AP5Z1 Gene SPG48 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the AP5Z1 gene for mutations linked to neurological disorders like hereditary spastic paraplegia. Helps in diagnosis and understanding genetic risk.
CYP2C9 Gene Coumarin/Warfarin Resistance Due to CYP2C9 Variants Genetic Test
This genetic test assesses variants in the CYP2C9 gene that may affect your body's response to warfarin, a common blood-thinning medication. Understanding your genetic profile can help tailor anticoagulant therapy for better safety and effectiveness.
MMADHC Gene Methylmalonic Aciduria CblD Type Genetic Test
Genetic test to identify mutations in the MMADHC gene, associated with Methylmalonic Aciduria (MMA) CblD type, a metabolic disorder linked to vitamin B12 metabolism. Helps in early diagnosis and management.
Comprehensive Skin Panel Genetic Test
The Comprehensive Skin Panel NGS Genetic DNA Test uses Next Generation Sequencing (NGS) to identify genetic mutations linked to various skin disorders. This test is valuable for individuals with a family history of skin conditions or unexplained skin symptoms.
CD19 Gene Immunodeficiency Common Variable Type 3 Genetic Test
The CD19 Gene Immunodeficiency Common Variable Type 3 NGS Genetic DNA Test identifies genetic mutations linked to immunodeficiency disorders using Next Generation Sequencing (NGS). It helps diagnose conditions like Common Variable Immunodeficiency (CVID) by examining the CD19 gene, crucial for B cell function.
SCN1B Gene Brugada Syndrome Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SCN1B gene for mutations associated with Brugada Syndrome Type 5, a heart condition. Confirm with the laboratory before booking.
UMOD Gene Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Genetic Test
Genetic test analyzing the UMOD gene for variations linked to glomerulocystic kidney disease, hyperuricemia, and isosthenuria. Helps identify hereditary risks for kidney disorders.
CD59 Gene Hemolytic Anemia CD59-Mediated With or Without Immune-Mediated Polyneuropathy Genetic Test
Genetic test to identify mutations in the CD59 gene associated with hemolytic anemia and related conditions, using Next Generation Sequencing (NGS).
PAFAH1B1 Gene Lissencephaly Type 1 Genetic Test
Genetic test to identify mutations in the PAFAH1B1 gene associated with Lissencephaly, a serious brain malformation. Aids in early diagnosis and management.
APC Gene Familial Adenomatous Polyposis Coli Genetic Test
This genetic test identifies mutations in the APC gene, linked to Familial Adenomatous Polyposis (FAP), a condition increasing colorectal cancer risk. Utilizes Next-Generation Sequencing (NGS).
Hemoglobin D Punjab HbD Mutation Study
The Hemoglobin D Punjab HbD Mutation Study is a genetic test to detect specific mutations linked to hemoglobin disorders. It helps diagnose and manage potential health risks, especially for those with a family history or symptoms of anemia.
Bordetella Multiplex Bordetella Pertussis, Legionella Pneumophilia, Klabsiella Pneumonia and Mycoplasma Pneumonia Detection Differentiation RNA Detection Qualitative Test
A comprehensive test to detect and differentiate RNA from Bordetella pertussis, Legionella pneumophilia, Klabsiella pneumonia, and Mycoplasma pneumonia, aiding in the diagnosis of respiratory infections.
Bacterial Genome De Novo Assembly and Annotation Illumina and ONT Hybrid
A comprehensive genetic analysis of bacterial organisms using advanced Illumina and Oxford Nanopore Technologies (ONT) sequencing to understand infections and guide treatment.
JAK 2 V617F CALR MPL Mutation Detection Profile Test
This genetic test identifies specific mutations (JAK2, CALR, MPL) linked to blood cancers like myeloproliferative neoplasms (MPNs), aiding in diagnosis and treatment planning.
Oncomine Juvenile Myelomonocytic Leukemia JMML Panel Test
The Oncomine Juvenile Myelomonocytic Leukemia (JMML) Panel Test identifies specific genetic mutations associated with JMML, aiding in diagnosis and personalized treatment planning.
FZD4 Gene Exudative Vitreoretinopathy Genetic Test
Genetic test to identify mutations in the FZD4 gene associated with exudative vitreoretinopathy, a serious eye condition. Uses Next-Generation Sequencing (NGS).
GRN Gene Dementia Frontotemporal Genetic Test
Genetic test to identify mutations in the GRN gene associated with frontotemporal dementia (FTD). Uses Next-Generation Sequencing (NGS) for accurate results.
ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test
Genetic test to identify mutations in the ACAD9 gene associated with Leigh syndrome and mitochondrial encephalopathy, aiding in the diagnosis of neurological disorders.
POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2 Genetic Test
Genetic test to identify mutations in the POMT2 gene, associated with a specific type of muscular dystrophy affecting muscles, brain, and eyes. Uses Next Generation Sequencing (NGS) technology.
AP4M1 Gene SPG50 Genetic Test
The AP4M1 Gene SPG50 NGS Genetic DNA Test identifies mutations in the AP4M1 gene, associated with certain neurological disorders. This test uses Next-Generation Sequencing (NGS) technology to provide detailed genetic information.
CYP2C19 Gene CYP2C19 Related Poor Drug Metabolism Genetic Test
Understand how your body processes certain medications with the CYP2C19 genetic test. This test helps predict drug response and potential side effects, aiding in personalized treatment.
MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MMACHC gene, aiding in the diagnosis of Methylmalonic aciduria (CblC type), a metabolic disorder. Confirm with the laboratory before booking.
Connective Tissue and Related Disorders Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify genetic variations associated with connective tissue disorders. Confirm with the laboratory before booking.
CD81 Gene Immunodeficiency Common Variable Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CD81 gene associated with Common Variable Immunodeficiency (CVID).
Hcn4 Gene Brugada Syndrome Type 8 Genetic Test
This genetic test identifies variations in the HCN4 gene associated with Brugada syndrome, a serious heart condition. It helps assess risk for individuals and families, especially those with a history of cardiac issues.
NR3C1 Gene Glucocorticoid Resistance Generalized Genetic Test
Genetic test analyzing the NR3C1 gene to identify variations associated with generalized glucocorticoid resistance. Helps understand the body's response to glucocorticoid hormones.
KEL Gene Hemolytic Anemia Kell-System Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the KEL gene associated with hemolytic anemia. Helps understand genetic risk, especially with family history.
RELN Gene Lissencephaly Type 2 Norman-Roberts Type Genetic Test
Genetic test to identify mutations in the RELN gene associated with Lissencephaly Type 2 (Norman-Roberts syndrome), a severe brain malformation. Helps diagnose genetic causes and inform management.
NTHL1 Gene Familial Adenomatous Polyposis Type 3 Genetic Test
The NTHL1 Gene Familial Adenomatous Polyposis Type 3 Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the NTHL1 gene, which are associated with an increased risk of developing certain cancers, particularly colorectal cancer. Genetic counseling is recommended before testing.
Hemophilia A Common Mutation Screening Factor VIII Intron 22 Inversion Analysis
Genetic test to identify the common Intron 22 inversion mutation in the Factor VIII gene, associated with Hemophilia A. Helps in early diagnosis and management of this bleeding disorder.
Human Exome Data Analysis, Variant Calling and Annotation
Comprehensive genetic test analyzing the exome (protein-coding regions of DNA) to identify variants potentially linked to health conditions. Useful for diagnosing unexplained symptoms or understanding family history of genetic disorders.
Japanese Encephalitis Virus JEV Detection PCR Test
Detects the Japanese Encephalitis Virus (JEV) in cerebrospinal fluid (CSF) using Real-Time PCR. Recommended for individuals with central nervous system symptoms or exposure risk.
Oncomine Myelodysplastic Syndrome MDS Panel Test
The Oncomine Myelodysplastic Syndrome (MDS) Panel Test identifies genetic mutations linked to MDS and leukemia, aiding in diagnosis and personalized treatment planning.
NDP Gene Exudative Vitreoretinopathy Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NDP gene associated with Exudative Vitreoretinopathy Type 2, a condition that can affect vision.
ITM2B Gene Dementia Familial Danish Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ITM2B gene associated with Familial Danish Type dementia. Helps assess hereditary risk for dementia.
SURF1 Gene Leigh Syndrome Due to COX Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SURF1 gene, associated with Leigh syndrome due to cytochrome c oxidase (COX) deficiency. Helps diagnose neurological disorders and guide management.
POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A3 Genetic Test
Genetic test for mutations in the POMGNT1 gene, associated with a specific type of congenital muscular dystrophy involving brain and eye anomalies. Helps diagnose and manage related neurological disorders.
AP4S1 Gene SPG52 Genetic Test
The AP4S1 Gene SPG52 NGS Genetic DNA Test identifies genetic mutations linked to specific neurological disorders using advanced Next Generation Sequencing (NGS) technology. This test is valuable for individuals with a family history of neurological conditions.
CTH Gene Cystathioninuria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CTH gene, aiding in the diagnosis of cystathioninuria, a rare metabolic disorder. Helps identify genetic risks and informs family planning.
ABCD4 Gene Methylmalonic Aciduria CblJ Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ABCD4 gene associated with Methylmalonic aciduria CblJ type, a rare metabolic disorder. Helps diagnose the condition and guide management.
COLEC11 Gene 3MC Syndrome Type 2 Genetic Test
Genetic test for mutations in the COLEC11 gene associated with 3MC Syndrome Type 2, using Next Generation Sequencing (NGS) technology. Helps diagnose conditions related to osteology, dermatology, and immunology.
TNFRSF13C Gene Immunodeficiency Common Variable Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TNFRSF13C gene, associated with Common Variable Immunodeficiency (CVID). Helps understand immune system dysfunction.
SCN3B Gene Brugada Syndrome Type 7 Genetic Test
Genetic test to identify mutations in the SCN3B gene associated with Brugada Syndrome Type 7, a heart condition. Uses Next-Generation Sequencing (NGS) technology.
GLDC Gene Glycine Encephalopathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GLDC gene associated with Glycine Encephalopathy. Helps in early diagnosis and management.
F9 Gene Hemophilia B Genetic Test
Genetic test to identify mutations in the F9 gene associated with Hemophilia B, a bleeding disorder. Useful for diagnosis and family planning.
TUBA1A Gene Lissencephaly Type 3 Genetic Test
Genetic test to identify mutations in the TUBA1A gene associated with lissencephaly type 3, a condition affecting brain development. Helps diagnose neurological disorders and understand genetic risks.
Msh3 Gene Familial Adenomatous Polyposis Type 4 Genetic Test
The MSH3 Gene Familial Adenomatous Polyposis Type 4 Genetic Test identifies mutations in the MSH3 gene linked to an increased risk of colorectal cancer. Recommended for individuals with a family history of FAP or colorectal cancer.
Hepatitis B Virus HBV Genotype
Identifies the specific strain (genotype) of the Hepatitis B virus (HBV) to help guide treatment decisions and monitor therapy effectiveness.
Fungal Genome De Novo Assembly and Annotation Illumina
This advanced genetic test analyzes the complete genetic sequence of fungal organisms to identify species and characteristics, aiding in diagnosis and targeted treatment.
Oncomine Myeloproliferative Neoplasm MPN Panel Test
The Oncomine Myeloproliferative Neoplasm (MPN) Panel Test identifies genetic mutations associated with blood disorders like leukemia, aiding in diagnosis and treatment planning.
KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1 Genetic Test
Genetic test to identify mutations in the KIF21A gene associated with congenital fibrosis of extraocular muscles, aiding in the diagnosis of certain eye movement disorders.
MAPT Gene Dementia Frontotemporal Genetic Test
The MAPT Gene Dementia Frontotemporal NGS Genetic DNA Test assesses genetic risk factors for frontotemporal dementia using Next-Generation Sequencing (NGS). Recommended for individuals with a family history of dementia.
MTND3 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MTND3 gene associated with Leigh Syndrome, a rare neurological disorder. Confirm with the laboratory before booking.
POMGNT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A8 Genetic Test
Genetic test for mutations in the POMGNT2 gene, associated with congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies. Helps diagnose neurological disorders.
AP4E1 Gene SPG51 Genetic Test
The AP4E1 Gene SPG51 NGS Genetic DNA Test identifies mutations in the AP4E1 gene associated with neurological disorders like Spastic Paraplegia Type 51 (SPG51).
SLC6A14 Gene Cystic Fibrosis SLC6A14 Related Genetic Test
This genetic test identifies mutations in the SLC6A14 gene associated with cystic fibrosis using Next Generation Sequencing (NGS). Recommended for individuals with a family history or symptoms related to cystic fibrosis.
LMBRD1 Gene Methylmalonic Aciduria CblF Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LMBRD1 gene associated with Methylmalonic Aciduria (MMA), a metabolic disorder. Helps in early diagnosis and management.
MASP1 Gene 3MC Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the MASP1 gene associated with 3MC syndrome, a rare disorder causing multiple congenital anomalies. Utilizes Next Generation Sequencing (NGS) technology.
LRBA Gene Immunodeficiency Common Variable Type 8 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LRBA gene, associated with certain immunodeficiency disorders. Confirm with the laboratory before booking.
CNOT3 Gene Cardiac Defects CNOT3 Related Genetic Test
This genetic test analyzes the CNOT3 gene to identify mutations linked to cardiac defects. It helps assess individual risk and informs management strategies for cardiovascular conditions.
GNMT Gene Glycine N-Methyltransferase Deficiency Genetic Test
The GNMT Gene Glycine N-Methyltransferase Deficiency NGS Genetic DNA Test uses next-generation sequencing to identify mutations in the GNMT gene, aiding in the diagnosis of metabolic disorders related to liver, kidney, and endocrine function. Recommended for individuals with relevant symptoms or family history.
HBG2 Gene Hereditary Persistence of Fetal Hemoglobin Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the HBG2 gene, identifying hereditary persistence of fetal hemoglobin. Useful for individuals with a family history of hemoglobin disorders.
LAMB1 Gene Lissencephaly Type 5 Genetic Test
This genetic test identifies mutations in the LAMB1 gene, which can cause Lissencephaly Type 5, a severe brain malformation. It helps diagnose the condition in children and provides information for family planning.
KIT Gene Gastrointestinal Stromal Tumor Familial Genetic Test
Genetic test to identify mutations in the KIT gene associated with an increased risk of developing gastrointestinal stromal tumors (GISTs), particularly in families with a history of the condition.
Hepatitis C Virus HCV Qualitative PCR HCV Genotyping Combo
Detects active Hepatitis C virus infection and identifies the specific viral strain (genotype) to guide treatment.
RNA Extraction from Solid Tissue Animal
RNA Extraction from Solid Tissue Animal isolates RNA from animal tissue samples, essential for genetic research and diagnostics.
Oncopro BRAF Rapid Test
The Oncopro BRAF Rapid Test detects BRAF gene mutations in cancer patients, aiding oncologists in making informed treatment decisions. This rapid test helps identify appropriate therapies for certain cancers, particularly melanoma.
T119 Q23P133 TCF3 BX1E2APBX1 PCR Qualitative Test
A genetic test using PCR to detect specific markers associated with leukemia, aiding in diagnosis and treatment planning.
TSPAN12 Gene Exudative Vitreoretinopathy Type 5 Genetic Test
Genetic test to identify mutations in the TSPAN12 gene associated with exudative vitreoretinopathy, a condition affecting eye health. Helps in early diagnosis and informed decision-making.
PSEN1 Gene Dementia Frontotemporal Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PSEN1 gene for mutations associated with frontotemporal dementia (FTD). Helps identify genetic risk factors.
MTND6 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the MTND6 gene associated with Leigh syndrome and mitochondrial complex I deficiency. Helps diagnose neurological disorders linked to mitochondrial dysfunction.
POMT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B1 Genetic Test
This genetic test identifies mutations in the POMT1 gene, associated with certain types of congenital muscular dystrophy and developmental delays. It uses Next Generation Sequencing (NGS) technology.
VPS37A Gene SPG53 Genetic Test
The VPS37A Gene SPG53 NGS Genetic DNA Test identifies mutations in the VPS37A gene linked to neurological disorders using Next Generation Sequencing (NGS). Recommended for individuals with a family history or symptoms of related conditions.
CFTR Gene Cystic Fibrosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CFTR gene associated with cystic fibrosis (CF), a condition affecting the lungs and digestive system.
CD320 Gene Methylmalonic Aciduria CblR Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CD320 gene associated with Methylmalonic aciduria CblR Type, a rare metabolic disorder. Useful for diagnosis and family planning.
SLC26A2 Gene Achondrogenesis Type 1B Genetic Test
This genetic test identifies mutations in the SLC26A2 gene associated with achondrogenesis type 1B, a severe skeletal disorder. It uses Next-Generation Sequencing (NGS) technology for accurate diagnosis.
LAMTOR2 Gene Immunodeficiency Due to Defect in MAPBP-Interacting Protein Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify defects in the MAPBP-interacting protein (LAMTOR2 gene), aiding in the diagnosis of specific immunodeficiency disorders.
SLMAP Gene Brugada Syndrome Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SLMAP gene for mutations associated with Brugada syndrome, a cardiac condition. Helps identify genetic risk factors.
GH1 Gene Growth Hormone Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GH1 gene associated with growth hormone deficiency. Helps diagnose and manage growth-related health issues.
TMPRSS6 Gene Iron-Refractory Iron Deficiency Anemia Genetic Test
Genetic test to identify mutations in the TMPRSS6 gene associated with iron-refractory iron deficiency anemia (IRIDA).
ARX Gene Lissencephaly Xlinked Type 2 Genetic Test
This genetic test identifies mutations in the ARX gene associated with Lissencephaly X-linked Type 2, a condition affecting brain development. Utilising Next Generation Sequencing (NGS) technology.
CDH1 Gene Gastric Cancer Hereditary Diffuse Genetic Test
The CDH1 Gene Gastric Cancer Hereditary Diffuse Genetic Test identifies genetic predispositions to gastric cancer using Next-Generation Sequencing (NGS). This test is important for individuals with a family history of gastric cancer, enabling early detection and preventive measures.
Campylobacter Jejuni RNA Detection Qualitative Test
Detects Campylobacter jejuni RNA to diagnose infections causing gastrointestinal illness. Uses Real Time PCR for rapid results.
Vertebrate Genome De Novo Assembly and Annotation Illumina
Comprehensive analysis of vertebrate DNA using advanced sequencing technology. Essential for genetic research, conservation, and understanding hereditary conditions.
JCBK Virus Detection PCR Test
The JCBK Virus Detection PCR Test identifies the presence of the JCBK virus using a highly sensitive PCR method. It is used for diagnosing infections and monitoring transplantation pathology.
Oncopro 350 Gene TMB MSI Profile Test
The Oncopro 350 Gene TMB MSI Profile Test assesses tumor mutation burden (TMB) and microsatellite instability (MSI) in cancer patients, aiding oncologists in tailoring treatment strategies.
T1119 Q23P133 MLLENL PCR Qualitative Test
A specialized genetic test using PCR to detect specific mutations associated with certain types of leukemia, aiding in diagnosis and treatment planning.
TUBB3 Gene Fibrosis of Extraocular Muscles Congenital Type 3a Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TUBB3 gene associated with congenital fibrosis of the extraocular muscles. Helps diagnose eye muscle disorders.
TARDBP Gene Dementia Frontotemporal Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TARDBP gene associated with frontotemporal dementia (FTD).
MTND5 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MTND5 gene associated with Leigh syndrome, a severe neurological disorder. Helps in diagnosis and management.
POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the POMT2 gene, associated with certain types of muscular dystrophy and neurological disorders. Confirm with the laboratory before booking.
DDHD2 Gene SPG54 Genetic Test
Genetic test analyzing the DDHD2 gene for variations linked to neurological disorders like hereditary spastic paraplegia, using Next Generation Sequencing (NGS).
CYP1A2 Gene Cytochrome P450 Deficiency Genetic Test
Understand how your body processes certain medications with the CYP1A2 Gene Cytochrome P450 Deficiency test. This genetic test analyzes variations in the CYP1A2 gene, which affects drug metabolism. Ideal for personalized medicine and managing potential drug reactions.
MMUT Gene Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency Genetic Test
Genetic test to detect mutations in the MMUT gene, associated with Methylmalonic aciduria, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
TRIP11 Gene Achondrogenesis Type 1A Genetic Test
This genetic test identifies mutations in the TRIP11 gene associated with Achondrogenesis Type 1A, a severe skeletal dysplasia. It uses Next Generation Sequencing (NGS) technology.
PNP Gene Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PNP gene, associated with purine nucleoside phosphorylase deficiency, a cause of severe immunodeficiency. Early diagnosis is important for management.
PPP1R8 Gene Cardiac Defects PPP1R8 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PPP1R8 gene associated with cardiac defects. Helps understand genetic risk for cardiovascular conditions.
Keap1 Gene Goitre Multinodular Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KEAP1 gene associated with multinodular goitre. Helps understand hereditary risks for goitre.
Cblif Gene Intrinsic Factor Deficiency Genetic Test
Genetic test to identify mutations in the CBLIF gene associated with intrinsic factor deficiency, aiding in the diagnosis and management of related health conditions like vitamin B12 deficiency.
DCX Gene Lissencephaly Xlinked Type 1 Genetic Test
A genetic test using Next Generation Sequencing (NGS) to identify mutations in the DCX gene, associated with lissencephaly, a serious brain development condition. Confirm with the laboratory before booking.
ANTXR1 Gene Hemangioma Capillary Infantile Genetic Test
Genetic test to identify mutations in the ANTXR1 gene associated with infantile capillary hemangiomas. Helps inform diagnosis and management.
Chandipora Virus RNA Detection Qualitative Test
Detects the presence of Chandipora virus RNA using Real Time PCR. Essential for diagnosing Chandipora virus infections and guiding timely medical intervention.
RNA Extraction from Solid Tissue Plant
RNA Extraction from Solid Tissue Plant isolates RNA from plant samples, essential for genetic research and agricultural studies. Confirm price and availability.
Oncopro Comprehensive Cancer Panel 161 Genes Test
The Oncopro Comprehensive Cancer Panel 161 Genes Test analyzes 161 genes linked to various cancers, aiding oncologists in developing personalized treatment strategies based on genetic mutations. Confirm with the laboratory before booking.
T1221 P13Q22 ETV6RUNX1 TELAML1 PCR Qualitative Test
Detects specific genetic mutations (ETV6RUNX1) associated with leukemia using a qualitative PCR test. Helps guide diagnosis and treatment.
PLA2G5 Gene Fleck Retina Familial Benign Genetic Test
Genetic test to identify variants in the PLA2G5 gene associated with familial benign fleck retina conditions using Next Generation Sequencing (NGS).
OCRL Gene Dent Disease Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the OCRL gene associated with Dent disease type 2, a condition affecting the kidneys and nervous system. Confirm with the laboratory before booking.
NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFA12 gene, associated with Leigh syndrome and mitochondrial complex I deficiency. Helps diagnose neurological disorders and guide management.
POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 Genetic Test
Genetic test for mutations in the POMGNT1 gene, associated with muscular dystrophy-dystroglycanopathy. Uses Next-Generation Sequencing (NGS) on DNA from a blood sample. Confirm price and turnaround time with the laboratory.
C12ORF65 Gene SPG55 Genetic Test
The C12ORF65 Gene SPG55 NGS Genetic DNA Test identifies genetic mutations linked to specific neurological disorders using Next-Generation Sequencing (NGS) technology. This test aids in diagnosing conditions like hereditary spastic paraplegia.
CTNS Gene Cystinosis Nephropathic Genetic Test
This genetic test detects mutations in the CTNS gene, helping diagnose cystinosis, a rare metabolic disorder affecting the kidneys. Early diagnosis is key for management.
MCEE Gene Methylmalonyl-CoA Epimerase Deficiency Genetic Test
Genetic test for Methylmalonyl-CoA epimerase deficiency (MCEE gene). Helps diagnose metabolic disorders and guide treatment.
COL2A1 Gene Achondrogenesis Type 2 Genetic Test
This genetic test identifies mutations in the COL2A1 gene associated with Achondrogenesis Type 2, a severe skeletal disorder. It helps diagnose genetic conditions affecting bone development.
CARD11 Gene Immunodeficiency Type 11 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CARD11 gene, associated with certain immunodeficiency disorders. Confirm with the laboratory before booking.
FLNA Gene Cardiac Valvular Dysplasia X-Linked Genetic Test
Genetic test to identify mutations in the FLNA gene associated with X-linked cardiac valvular dysplasia, a condition affecting heart valves. Uses Next Generation Sequencing (NGS) technology.
GHRHR Gene Growth Hormone Deficiency Genetic Test
This genetic test analyzes the GHRHR gene to identify potential causes of growth hormone deficiency using Next-Generation Sequencing (NGS) technology. It helps understand the genetic basis of growth-related disorders.
KLF1 Gene Lutheran Inhibitor Blood Group Genetic Test
Genetic test analyzing the KLF1 gene to understand Lutheran blood group characteristics and associated risks.
FOXC2 Gene Lymphedema-Distichiasis Syndrome Genetic Test
Genetic test to identify mutations in the FOXC2 gene associated with lymphedema and distichiasis. Helps understand genetic predispositions for informed health decisions.
KDR Gene Hemangioma Capillary Infantile Familial Susceptibility to Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KDR gene for mutations associated with familial susceptibility to infantile hemangiomas and related vascular conditions.
Hepatitis C Virus HCV Qualitative PCR
Detect the presence of the Hepatitis C virus (HCV) in your blood with our Qualitative PCR test. Essential for early diagnosis and management of Hepatitis C.
RNA Extraction from Blood Paxgene Tempus
RNA Extraction from Blood Paxgene Tempus isolates RNA from blood samples for genetic analysis. This test is used in disease diagnosis, monitoring treatment, and research.
Buccal Smear for Barr Bodies Sex Chromatin Test
The Buccal Smear for Barr Bodies Sex Chromatin Test helps identify genetic conditions related to sex chromosomes by detecting Barr bodies (inactive X chromosomes).
CYP2C19 Genotyping Test
The CYP2C19 Genotyping Test helps understand how your body processes certain medications, guiding personalized treatment plans for better health outcomes. This test is important for individuals on specific medications.
Oncopro Egfr Arms Pcr Test
The Oncopro EGFR ARMS PCR Test detects mutations in the EGFR gene, guiding personalized cancer treatment decisions, particularly for non-small cell lung cancer. Confirm with the laboratory before booking.
T911 P2122Q23 MLLAF9 PCR Qualitative Test
The T911 P2122Q23 MLLAF9 PCR Qualitative Test is a specialized genetic test used to help detect leukemia by identifying specific genetic markers in blood or bone marrow samples. It uses Real-Time PCR technology.
PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test
Genetic test to identify mutations in the PAX6 gene, associated with eye development disorders like foveal hypoplasia and vision impairment. Utilizes Next-Generation Sequencing (NGS) technology.
SNCA Gene Dementia Lewy Body Genetic Test
Genetic test for SNCA gene mutations linked to Lewy Body Dementia (LBD). Uses Next-Generation Sequencing (NGS) to analyze DNA, aiding in understanding genetic predispositions and guiding management.
PC Gene Leigh Syndrome Due to Pyruvate Carboxylase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PC gene associated with Leigh syndrome, a neurological disorder. Helps in diagnosis and management.
POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C2 Genetic Test
Genetic test to identify mutations in the POMT2 gene associated with Limb-Girdle Muscular Dystrophy Type C2 (a form of dystroglycanopathy).
CYP2U1 Gene SPG56 Genetic Test
The CYP2U1 Gene SPG56 NGS Genetic DNA Test identifies genetic variations linked to neurological disorders using Next Generation Sequencing (NGS) technology. Recommended for individuals with a family history or symptoms of neurological conditions.
D2HGDH Gene D2hydroxyglutaric Aciduria Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the D2HGDH gene associated with D-2-hydroxyglutaric aciduria Type 1, a rare metabolic disorder. Early diagnosis is important for management.
VEGFA Gene Microvascular Complications of Diabetes Type 1 Genetic Test
Understand your genetic risk for microvascular complications of Type 1 Diabetes with the VEGFA Gene test. Utilizes NGS technology for comprehensive analysis.
FGFR3 Gene Achondroplasia Genetic Test
This genetic test identifies mutations in the FGFR3 gene associated with Achondroplasia, a common form of dwarfism. It uses Next Generation Sequencing (NGS) technology for accurate analysis.
STIM1 Gene Immunodeficiency Type 10 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the STIM1 gene, associated with certain immunodeficiency disorders. Recommended for individuals with relevant symptoms or family history.
SCO2 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Genetic Test
Genetic test to identify mutations in the SCO2 gene associated with a severe, often fatal, infantile condition affecting the heart and brain (cardioencephalomyopathy) due to cytochrome c oxidase deficiency. Early diagnosis is crucial for management.
STAT5B Gene Growth Hormone Insensitivity with Immunodeficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the STAT5B gene, aiding in the diagnosis of growth hormone insensitivity and related immunodeficiency disorders.
TERT Gene Leukemia Acute Myeloid Form Susceptible Due to TERT Germline Mutation Genetic Test
This genetic test identifies mutations in the TERT gene that may increase susceptibility to acute myeloid leukemia (AML). It uses Next Generation Sequencing (NGS) to analyze DNA.
MED12 Gene Lujan-Fryns Syndrome Genetic Test
This genetic test identifies mutations in the MED12 gene associated with Lujan-Fryns syndrome using Next Generation Sequencing (NGS). It helps understand genetic risks and inform healthcare decisions for individuals and families, particularly those with a history of developmental delays or physical anomalies.
RAD50 Gene Hereditary Breast and Ovarian Cancer Syndrome RAD50 Related Genetic Test
Genetic test to identify mutations in the RAD50 gene, which may increase the risk of hereditary breast and ovarian cancer. Helps understand personal cancer risk and guide preventive measures.
RNA Extraction from Cultured Cells
Isolates RNA from cultured cells for molecular biology applications like gene expression analysis and sequencing. Essential for researchers and clinicians.
CYP3A422 Genotyping Test
The CYP3A422 Genotyping Test helps understand how your genes affect your body's response to certain medications, aiding in personalized treatment plans.
Oncopro EGFR Rapid Test
The Oncopro EGFR Rapid Test identifies specific mutations in the EGFR gene found in some non-small cell lung cancers. This information helps doctors choose the most effective treatment options. Confirm with the laboratory before booking.
T411 Q21Q23 MLLAF4 PCR Qualitative Test
The T411 Q21Q23 MLLAF4 PCR Qualitative Test detects specific genetic mutations linked to leukemia, aiding in diagnosis and treatment planning. Confirm with the laboratory before booking.
RDH5 Gene Fundus Albipunctatus Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the RDH5 gene for mutations associated with fundus albipunctatus, a rare retinal disorder. Helps identify genetic risks for eye conditions.
ATN1 Gene Dentatorubralpallidoluysian Atrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ATN1 gene, associated with Dentatorubralpallidoluysian Atrophy (DRPLA), a neurological disorder. Helps identify genetic predispositions for better patient management.
LIPT1 Gene Leigh Syndrome Due to Pyruvate and Alpha-Ketoglutarate Dehydrogenase Deficiencies LIPT1 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the LIPT1 gene, associated with Leigh syndrome and related neurological disorders. Helps diagnose genetic predispositions.
POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3 Genetic Test
This genetic test identifies mutations in the POMGNT1 gene, associated with a specific type of muscular dystrophy (Limb-Girdle Type C3). It helps diagnose the condition, guiding treatment and genetic counseling.
TFG Gene SPG57 Genetic Test
The TFG Gene SPG57 NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders using Next-Generation Sequencing (NGS). This test can help in the diagnosis and management of conditions related to the TFG gene.
HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test
Genetic test to identify mutations in the HSD17B4 gene, associated with D-bifunctional protein deficiency, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
MVK Gene Mevalonic Aciduria Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MVK gene associated with Mevalonic aciduria, a rare metabolic disorder. Helps in diagnosis and management.
Psen1 Gene Acne Inversa Familial Type 3 Genetic Test
Genetic test analyzing the PSEN1 gene for mutations associated with familial acne inversa. Provides insights for individuals with a family history of this skin condition.
MALT1 Gene Immunodeficiency Type 12 Genetic Test
The MALT1 Gene Immunodeficiency Type 12 NGS Genetic DNA Test identifies mutations in the MALT1 gene associated with specific genetic immunodeficiency disorders. This test uses advanced Next Generation Sequencing (NGS) technology.
COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 Genetic Test
Genetic test to identify mutations in the COA5 gene associated with cytochrome c oxidase deficiency type 3, a serious condition affecting infants. Early diagnosis aids in management and improves outcomes.
Cfb Gene Hemolytic Uremic Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CFB gene for variations linked to Hemolytic Uremic Syndrome (HUS). Helps assess risk, especially with family history.
ITK Gene Lymphoproliferative Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ITK gene for variations associated with Lymphoproliferative Syndrome Type 1. Recommended for individuals with a family history or symptoms suggestive of this condition.
RIN2 Gene Macrocephaly Alopecia Cutis Laxa and Scoliosis Genetic Test
Genetic test analyzing the RIN2 gene for mutations associated with macrocephaly, alopecia, cutis laxa, and scoliosis. Aids in diagnosis and management.
NDUFA13 Gene Hurthle Cell Thyroid Carcinoma Due to Germline NDUFA13 Mutation Genetic Test
Genetic test to identify mutations in the NDUFA13 gene associated with Hurthle cell thyroid carcinoma. Helps assess risk for individuals with a family history of this specific thyroid cancer.
CMV Viral Load Quantitative Test
The CMV Viral Load Quantitative Test measures the amount of cytomegalovirus (CMV) in your blood. It is important for monitoring CMV infections, especially in individuals with weakened immune systems.
RNA Extraction from Fungus Mycelium
RNA Extraction from Fungus Mycelium isolates RNA from fungal samples, essential for research in fungal biology, genetics, and biotechnology.
Cystic Fibrosis Mutation Detection Test
Identifies genetic mutations in the CFTR gene associated with cystic fibrosis, a serious inherited disorder affecting multiple organs. Essential for early diagnosis and management.
Comprehensive Hereditary Cancer Panel 150 Genes Test
The Comprehensive Hereditary Cancer Panel 150 Genes Test identifies genetic mutations linked to an increased risk of developing certain cancers. This test screens 150 genes to provide insights into your hereditary cancer risk, aiding in early detection and preventive measures. It is particularly useful for individuals with a family history of cancer.
PRPH2 Gene Fundus Albipunctatus Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the PRPH2 gene associated with Fundus Albipunctatus, a rare retinal disorder causing vision impairment.
SLC1A4 Gene Developmental Delay and Microcephaly SLC1A4 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SLC1A4 gene for variations associated with developmental delays and microcephaly. Helps identify potential genetic causes of neurological disorders.
Lrpprc Gene Leigh Syndrome FrenchCanadian Type Genetic Test
Genetic test to identify mutations in the LRPPRC gene associated with Leigh Syndrome, French-Canadian type. Helps diagnose this severe neurological disorder.
DAG1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C9 Genetic Test
Genetic test for mutations in the DAG1 gene, associated with Limb-Girdle Muscular Dystrophy Type C9 (Dystroglycanopathy). Helps diagnose and understand this specific type of muscular dystrophy.
USP8 Gene SPG59 USP8 Related Genetic Test
Genetic test analyzing the USP8 gene for mutations linked to neurological disorders like hereditary spastic paraplegia (SPG59). Uses Next Generation Sequencing (NGS) technology.
IDH2 Gene D2hydroxyglutaric Aciduria Type 2 Genetic Test
This genetic test identifies mutations in the IDH2 gene associated with D-2-hydroxyglutaric aciduria type 2, a rare metabolic disorder. It uses Next Generation Sequencing (NGS) technology.
SOD2 Gene Microvascular Complications of Diabetes Type 6 Susceptibility to Genetic Test
This genetic test assesses your risk for microvascular complications (like eye, kidney, and nerve damage) associated with diabetes by analysing the SOD2 gene. Understanding your genetic predisposition can help guide preventive healthcare.
SLC39A4 Gene Acrodermatitis Enteropathica Genetic Test
Genetic test to identify mutations in the SLC39A4 gene associated with acrodermatitis enteropathica, a rare disorder of zinc absorption. Confirm with the laboratory before booking.
Pik3cd Gene Immunodeficiency Type 14 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PIK3CD gene for mutations associated with Immunodeficiency Type 14. Helps identify genetic predispositions to immunodeficiency disorders.
Cox15 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 Genetic Test
Genetic test to identify mutations in the COX15 gene associated with cytochrome c oxidase deficiency type 2, a severe condition affecting infants. Early diagnosis can inform medical management.
CFH Gene Hemolytic Uremic Syndrome Genetic Test
This genetic test analyzes the CFH gene to identify mutations associated with an increased risk of developing hemolytic uremic syndrome (HUS), a serious kidney condition. It uses advanced Next Generation Sequencing (NGS) technology.
CTLA4 Gene Lymphoproliferative Syndrome Autoimmune Type 5 Genetic Test
This genetic test identifies mutations in the CTLA4 gene, which can be associated with autoimmune disorders. It helps understand genetic predispositions and guide treatment.
LMNA Gene Mandibuloacral Dysplasia Genetic Test
This genetic test identifies mutations in the LMNA gene associated with mandibuloacral dysplasia, a condition affecting skeletal and skin health. Utilizes Next Generation Sequencing (NGS) technology.
IDH1 Gene IDH1 Selective Sequencing of Exon 4 Genetic Test
The IDH1 Gene IDH1 Selective Sequencing of Exon 4 NGS Genetic DNA Test identifies mutations in the IDH1 gene, often linked to certain cancers. This test uses Next Generation Sequencing (NGS) technology.
Hereditary Persistence of Fetal Hemoglobin (HPFH)
The Hereditary Persistence of Fetal Hemoglobin (HPFH) test helps identify elevated levels of fetal hemoglobin, which can indicate certain genetic blood disorders. This test is important for individuals with a family history of hemoglobinopathies or those experiencing related symptoms.
Chlamydia Pneumonia RNA Detection Qualitative Test
Detects the presence of Chlamydia pneumoniae RNA, a bacterium causing respiratory infections, using Real Time PCR. Essential for diagnosing respiratory symptoms.
RNA Extraction from Fungus Spores
RNA Extraction from Fungus Spores helps identify fungal infections by analyzing RNA from spores. This test aids in diagnosing fungal diseases and guiding treatment.
C1 Esterase Inhibitor Functional C1 Inactivator Functional Test
This test measures the function of the C1 esterase inhibitor protein, helping to diagnose disorders of the complement system, such as hereditary angioedema.
Cystic Fibrosis Newborn Screen Test
A vital genetic screening test for newborns to detect cystic fibrosis (CF), a genetic disorder affecting lungs and digestion. Early detection allows for timely management.
Oncopro Focus Fusion Panel For Solid Tumors Test
The Oncopro Focus Fusion Panel for Solid Tumors is a genetic test using Next Generation Sequencing to detect mutations in key genes associated with various solid tumors. This information helps oncologists tailor cancer treatment plans.
ROBO3 Gene Gaze Palsy Horizontal with Progressive Scoliosis Genetic Test
Genetic test analyzing the ROBO3 gene to identify mutations associated with Horizontal Gaze Palsy and Progressive Scoliosis. Helps in diagnosis and understanding genetic risk.
GNAQ Gene Developmental Delay GNAQ Related Genetic Test
The GNAQ Gene Developmental Delay test uses Next-Generation Sequencing (NGS) to identify genetic mutations in the GNAQ gene associated with developmental delays and neurological disorders. This test provides crucial insights for diagnosis and management.
TACO1 Gene Leigh Syndrome Due To The Mitochondrial Complex IV Deficiency Genetic Test
Genetic test to identify mutations in the TACO1 gene, associated with Leigh syndrome, a severe neurological disorder. Helps understand the cause of symptoms and guide management.
CAPN1 Gene Muscularskeletal Disorder CAPN1 Related Genetic Test
This genetic test identifies mutations in the CAPN1 gene, associated with certain muscularskeletal and neurological disorders. It uses Next-Generation Sequencing (NGS) for accurate analysis.
CYP7B1 Gene SPG5A Genetic Test
The CYP7B1 Gene SPG5A NGS Genetic DNA Test identifies mutations in the CYP7B1 gene associated with neurological disorders like hereditary spastic paraplegia. This test uses Next-Generation Sequencing (NGS) technology for accurate genetic analysis.
GLYCTK Gene D-Glyceric Aciduria Genetic Test
The GLYCTK Gene D-Glyceric Aciduria NGS Genetic DNA Test identifies mutations in the GLYCTK gene linked to D-glyceric aciduria, a rare metabolic disorder. This test uses Next-Generation Sequencing (NGS) to provide insights into the genetic basis of the condition.
RFX6 Gene Mitchell-Riley Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RFX6 gene, associated with Mitchell-Riley syndrome and metabolic disorders. Aids in understanding genetic risks and informing medical decisions.
PDE4D Gene Acrodysostosis 2 Genetic Test
The PDE4D Gene Acrodysostosis 2 NGS Genetic DNA Test helps identify genetic mutations linked to acrodysostosis, a rare skeletal disorder. This test uses advanced Next Generation Sequencing (NGS) technology to analyze the PDE4D gene, providing valuable information for diagnosis and management.
IKBKB Gene Immunodeficiency Type 15 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the IKBKB gene, which can be associated with certain immunodeficiency disorders. Helps in understanding genetic risks and guiding management.
BRAF Gene Cardiofaciocutaneous Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the BRAF gene associated with Cardiofaciocutaneous Syndrome and related conditions. Aids in early diagnosis and management.
CFHR1 Gene Hemolytic Uremic Syndrome Genetic Test
Genetic test to identify mutations in the CFHR1 gene associated with hemolytic uremic syndrome (HUS). Uses Next-Generation Sequencing (NGS) technology.
SH2D1A Gene Lymphoproliferative Syndrome X-Linked Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SH2D1A gene, aiding in the diagnosis of X-Linked Lymphoproliferative Syndrome Type 1 (XLP1).
POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the POLD1 gene associated with conditions like mandibular hypoplasia, deafness, progeroid features, and lipodystrophy. Confirm with the laboratory before booking.
IDH2 Gene IDH2 Selective Sequencing of Exon 4 Genetic Test
This genetic test identifies mutations in the IDH2 gene, often linked to certain cancers. It uses Next-Generation Sequencing (NGS) to help guide personalized treatment decisions. Confirm with the laboratory before booking.
RNA Extraction from Soil
RNA Extraction from Soil is a test for researchers and environmental scientists to analyze microbial communities in soil samples, providing insights into ecosystem dynamics and soil health.
Oncopro KRASTest
The Oncopro KRAS Rapid Test detects mutations in the KRAS gene, aiding in cancer diagnosis and personalized treatment planning. Results are typically available the next working day.
ITPR1 Gene Gillespie Syndrome Genetic Test
Genetic test to identify mutations in the ITPR1 gene associated with Gillespie syndrome, a rare condition causing developmental delays and eye problems. Uses Next Generation Sequencing (NGS) technology.
Dnm2 Gene Dicmtb Genetic Test
The DNM2 Gene DICMTB NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders using advanced sequencing technology. This test aids in diagnosing conditions causing muscle weakness and atrophy.
PDHA1 Gene Leigh Syndrome X-Linked Genetic Test
Genetic test to identify mutations in the PDHA1 gene associated with Leigh syndrome, a severe neurological disorder. Uses Next Generation Sequencing (NGS) technology.
GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the GFPT1 gene for variations linked to congenital myasthenic syndromes. Helps diagnose genetic causes of muscle weakness and fatigue.
NIPA1 Gene SPG6 Genetic Test
The NIPA1 Gene SPG6 NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders using Next Generation Sequencing (NGS) technology. This test aids in diagnosing conditions like hereditary spastic paraplegia.
AVPR2 Gene Diabetes Insipidus Nephrogenic X-Linked Genetic Test
Genetic test to identify mutations in the AVPR2 gene associated with nephrogenic diabetes insipidus, a condition affecting kidney function and water balance.
SAMD9 Gene Mirage Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SAMD9 gene associated with Mirage syndrome, a rare metabolic disorder. Confirm with the laboratory before booking.
SF3B4 Gene Acrofacial Dysostosis 1 Nager Type Genetic Test
Genetic test analyzing the SF3B4 gene using Next Generation Sequencing (NGS) to help diagnose Acrofacial Dysostosis 1 (Nager type), a condition affecting facial and limb development. Genetic counseling is recommended before testing.
CD3E Gene Immunodeficiency Type 18 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CD3E gene for potential immunodeficiency disorders. Recommended for individuals with relevant symptoms or family history.
KRAS Gene Cardiofaciocutaneous Syndrome Genetic Test
This genetic test analyzes the KRAS gene using Next-Generation Sequencing (NGS) to assess predisposition to Cardiofaciocutaneous syndrome, a condition affecting the heart, face, and skin. Confirm with the laboratory before booking.
CFHR2 Gene Hemolytic Uremic Syndrome Genetic Test
Genetic test to identify predispositions to hemolytic uremic syndrome (HUS) by analyzing the CFHR2 gene. Helps understand risk and guide medical care.
XIAP Gene Lymphoproliferative Syndrome X-Linked Type 2 Genetic Test
Genetic test for mutations in the XIAP gene associated with X-linked lymphoproliferative syndrome type 2. Helps identify hereditary risks for hematological disorders.
Piezo2 Gene Marden-Walker Syndrome Genetic Test
Genetic test analyzing the PIEZO2 gene to identify mutations associated with Marden-Walker syndrome, aiding in diagnosis and management.
JAK2 Gene JAK2 Selective Sequencing of Exons 12, 14 and 16 Genetic Test
This genetic test analyzes specific parts of the JAK2 gene (exons 12, 14, and 16) using Next Generation Sequencing (NGS) to identify mutations linked to certain blood disorders, aiding in diagnosis and treatment planning.
Hereditary Spastic Paraplegia Gene Panel
A genetic test to identify mutations linked to Hereditary Spastic Paraplegia (HSP), a group of inherited disorders causing progressive leg weakness and stiffness. Helps confirm diagnosis and guide management.
Chocolo Virus RNA Detection Qualitative Test
Detects the presence of Chocolo virus RNA using Real Time PCR technology to diagnose active viral infections.
Beta CTx Beta Crosslaps Collagen Type 1 C-Telopeptide Test
The Beta CTx test measures bone resorption markers to help assess bone health and osteoporosis risk.
OncoPro Liquid Biopsy Test
The OncoPro Liquid Biopsy Test is an advanced, non-invasive blood test using next-generation sequencing to analyze 73 cancer-related genes. It aids in cancer detection and monitoring.
MYOC Gene Glaucoma Open Angle Type 1A Genetic Test
Genetic test to identify mutations in the MYOC gene associated with open-angle glaucoma, aiding in early detection and management.
KMT2C Gene Developmental Delay KMT2C Related Genetic Test
This genetic test identifies mutations in the KMT2C gene, which can be associated with developmental delays and neurological conditions. It uses Next Generation Sequencing (NGS) technology.
LMNB1 Gene Leukodystrophy Demyelinating Adult-Onset Autosomal Dominant Genetic Test
Genetic test to detect mutations in the LMNB1 gene associated with adult-onset leukodystrophy, a type of demyelinating neurological disorder. Helps in diagnosis and understanding genetic risks.
MUSK Gene Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency Genetic Test
Genetic test for Myasthenic Syndrome associated with Acetylcholine Receptor Deficiency by analysing the MUSK gene using Next Generation Sequencing (NGS).
ARL6IP1 Gene SPG61 Genetic Test
The ARL6IP1 Gene SPG61 NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders like hereditary spastic paraplegia using next-generation sequencing.
AVP Gene Diabetes Insipidus Neurohypophyseal Genetic Test
Genetic test to identify mutations in the AVP gene associated with neurohypophyseal diabetes insipidus, a condition affecting water balance.
MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MPC1 gene, associated with mitochondrial pyruvate carrier deficiency and metabolic disorders.
ATP2A2 Gene Acrokeratosis Verruciformis Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ATP2A2 gene associated with acrokeratosis verruciformis, a skin disorder.
CD3D Gene Immunodeficiency Type 19 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CD3D gene for variations associated with immunodeficiency disorders. Helps identify potential causes of immune system dysfunction.
MAP2K1 Gene Cardiofaciocutaneous Syndrome Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MAP2K1 gene associated with Cardiofaciocutaneous Syndrome Type 3. Helps understand genetic predispositions related to this rare disorder.
CFHR4 Gene Hemolytic Uremic Syndrome Genetic Test
Genetic test to identify mutations in the CFHR4 gene associated with Hemolytic Uremic Syndrome (HUS), a serious kidney condition. Uses Next Generation Sequencing (NGS) technology.
AMN Gene Megaloblastic Anemia Type 1 Genetic Test
This genetic test identifies mutations in the AMN gene associated with megaloblastic anemia, a condition affecting red blood cell production. It uses Next-Generation Sequencing (NGS) technology.
FBN1 Gene Marfan Lipodystrophy Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FBN1 gene for mutations associated with Marfan syndrome and related connective tissue disorders. Confirm with the laboratory before booking.
CBL Gene Juvenile Myelomonocytic Leukemia Due to CBL Germline Mutation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect CBL gene mutations associated with Juvenile Myelomonocytic Leukemia (JMML).
HLA A B C DRB1 DQB1 Any One Low Resolution
The HLA A B C DRB1 DQB1 Any One Low Resolution test identifies specific human leukocyte antigens (HLA) crucial for organ transplant compatibility and understanding immune responses. Confirm with the laboratory before booking.
RNA Extraction from Plasma or Serum
RNA Extraction from Plasma or Serum isolates RNA from blood samples for analysis, aiding in the diagnosis and monitoring of various health conditions.
C7 Complement Test
The C7 Complement Test measures the C7 protein level in your blood to help diagnose disorders of the complement system, a part of your immune system. This test can provide insights into immune function and susceptibility to infections.
OncoPro NCCN Lung Cancer Panel Test
The OncoPro NCCN Lung Cancer Panel Test uses advanced genetic sequencing to detect key mutations in lung cancer, aiding in personalized treatment decisions. Confirm with the laboratory before booking.
ASB10 Gene Glaucoma Open Angle Type 1F Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the ASB10 gene associated with open-angle glaucoma. Helps assess risk and inform management.
YARS1 Gene DICMTC Genetic Test
The YARS1 Gene DICMTC NGS Genetic DNA Test identifies genetic variations in the YARS1 gene associated with neurological disorders. This test uses Next Generation Sequencing (NGS) technology for a comprehensive analysis.
HPRT1 Gene Lesch-Nyham Syndrome Genetic Test
This genetic test identifies mutations in the HPRT1 gene, which cause Lesch-Nyhan syndrome, a rare neurological disorder. It uses Next-Generation Sequencing (NGS) technology for accurate detection.
SCN4A Gene Myasthenic Syndrome Due to Mutation in SCN4A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SCN4A gene associated with myasthenic syndromes. Helps diagnose neurological conditions causing muscle weakness.
WDR48 Gene SPG60 WDR48 Related Genetic Test
Genetic test to identify mutations in the WDR48 gene, associated with certain neurological disorders like hereditary spastic paraplegia. Uses Next-Generation Sequencing (NGS) technology.
INS Gene Diabetes Mellitus Type 1 Genetic Test
Assess your genetic predisposition to Type 1 Diabetes with the INS Gene Diabetes Mellitus Type 1 NGS Genetic DNA Test. This test analyzes the INS gene to identify variations linked to insulin production and diabetes risk.
MOCS1 Gene Molybdenum Cofactor Deficiency Type A Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MOCS1 gene, associated with Molybdenum Cofactor Deficiency Type A, a rare metabolic disorder. Helps diagnose and manage metabolic conditions.
ARHGAP31 Gene Adams-Oliver Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the ARHGAP31 gene associated with Adams-Oliver syndrome, a condition affecting limb and scalp development. Uses Next Generation Sequencing (NGS) technology.
AICDA Gene Immunodeficiency Type 2 with HyperIgM Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify mutations in the AICDA gene, aiding in the diagnosis of specific immunodeficiency disorders like Hyper-IgM Syndrome. Understanding genetic predispositions is key for early management.
MTATP8 Gene Cardiomyopathy Apical Hypertrophic and Neuropathy MTATP8 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MTATP8 gene associated with cardiomyopathy, apical hypertrophy, and neuropathy. Helps assess risk for individuals with symptoms or family history.
CFHR3 Gene Hemolytic Uremic Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CFHR3 gene associated with Hemolytic Uremic Syndrome (HUS). Helps assess risk for individuals with family history or symptoms.
CUBN Gene Megaloblastic Anemia Type 1 Finnish Type Genetic Test
Genetic test to identify variations in the CUBN gene associated with Megaloblastic Anemia Type 1, particularly relevant for individuals of Finnish descent.
RAB3GAP2 Gene Martsolf Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RAB3GAP2 gene associated with Martsolf syndrome. Helps diagnose the condition, characterized by developmental delays and distinct physical features.
BMPR1A Gene Juvenile Polyposis Syndrome Genetic Test
Genetic test for Juvenile Polyposis Syndrome (JPS) by analysing the BMPR1A gene. Helps identify hereditary risks associated with the condition and potential cancer development. Recommended for individuals with a family history or symptoms.
RNA Extraction from Milk
Isolates RNA from milk samples for analysis. Useful for research, veterinary science, and food safety.
OPTN Gene Glaucoma Open Angle Type 1E Genetic Test
This genetic test analyzes the OPTN gene to identify mutations associated with open-angle glaucoma, aiding in early detection and risk assessment, especially for those with a family history.
MPZ Gene DICMTD Genetic Test
The MPZ Gene DICMTD NGS Genetic DNA Test uses advanced sequencing technology to identify genetic mutations in the MPZ gene associated with certain neurological disorders. This test can help in understanding potential risks and guiding management.
GJC2 Gene Leukodystrophy Hypomyelinating Genetic Test
Genetic test to identify mutations in the GJC2 gene associated with hypomyelinating leukodystrophies, a type of neurological disorder. Helps in diagnosis and management.
AGRN Gene Myasthenic Syndrome Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the AGRN gene for mutations associated with congenital myasthenic syndromes. Helps diagnose neuromuscular disorders.
Ampd2 Gene Spg63 Genetic Test
The Ampd2 Gene SPG63 NGS Genetic DNA Test identifies mutations in the AMPD2 gene linked to SPG63, a hereditary neurological disorder. This test uses Next-Generation Sequencing (NGS) technology to provide detailed genetic insights.
HNF1A Gene Diabetes Mellitus Insulin-Dependent Type 20 Genetic Test
Genetic test to identify mutations in the HNF1A gene associated with insulin-dependent diabetes. Helps understand genetic predisposition and guide management.
MOCS2 Gene Molybdenum Cofactor Deficiency Type B Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MOCS2 gene associated with Molybdenum cofactor deficiency type B, a rare metabolic disorder.
Dock6 Gene Adams-Oliver Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the DOCK6 gene associated with Adams-Oliver syndrome, a condition affecting skin, limbs, and potentially neurological function.
GATA2 Gene Immunodeficiency Type 21 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GATA2 gene, associated with certain immunodeficiency and dermatological disorders.
MAP2K2 Gene Cardiofaciocutaneous Syndrome Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MAP2K2 gene associated with Cardiofaciocutaneous Syndrome Type 4. This test can help understand potential risks for related cardiovascular conditions.
CFHR5 Gene Hemolytic Uremic Syndrome Genetic Test
This genetic test identifies mutations in the CFHR5 gene associated with an increased risk of developing hemolytic uremic syndrome (HUS). It uses Next Generation Sequencing (NGS) technology for comprehensive analysis.
Cyb5r3 Gene Methemoglobinemia Type 1 Genetic Test
Genetic test to identify mutations in the CYB5R3 gene associated with Methemoglobinemia Type 1, a condition affecting oxygen transport in the blood.
Pik3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PIK3R2 gene. Helps identify mutations associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
SMAD4 Gene Juvenile Polyposis Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SMAD4 gene associated with Juvenile Polyposis Syndrome (JPS), a condition linked to an increased risk of gastrointestinal cancers. Confirm with the laboratory before booking.
HLA A B C DRB1 DQB1 High Resolution
The HLA A B C DRB1 DQB1 High Resolution test analyzes key immune system genes (HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1) to assess genetic compatibility, crucial for organ transplantation and understanding certain autoimmune conditions.
CML MRD1 Viral Load Quantitative Test
Monitor your Chronic Myeloid Leukemia (CML) treatment response with the CML MRD1 Viral Load Quantitative Test. This test measures the viral load to help your doctor assess treatment effectiveness.
RNA QC and Quantitation
Assess the quality and quantity of your RNA sample. Essential for researchers and clinicians needing reliable results for molecular biology applications like gene expression analysis and RNA sequencing.
Kras Nras Mutation Analysis Panel Test
The KRAS/NRAS Mutation Analysis Panel Test identifies specific genetic mutations in KRAS and NRAS genes, crucial for guiding cancer treatment decisions, particularly for colorectal, lung, and melanoma cancers.
Oncopro Tumor Mutation Burden TMB Test
The Oncopro Tumor Mutation Burden (TMB) Test assesses the number of mutations in tumor DNA. This genetic test helps guide personalized cancer treatment decisions, particularly regarding immunotherapy.
Ntf4 Gene Glaucoma Open Angle Type 1F Genetic Test
The NTF4 Gene Glaucoma Open Angle Type 1F NGS Genetic DNA Test identifies genetic predispositions to glaucoma, a serious eye condition. Early detection can lead to better management and treatment options.
GABRG2 Gene Dravet Syndrome Genetic Test
Genetic test to identify mutations in the GABRG2 gene associated with Dravet syndrome, a severe form of epilepsy. Helps in diagnosis and management.
AIMP1 Gene Leukodystrophy Hypomyelinating Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AIMP1 gene, associated with leukodystrophy, a rare neurological disorder. Helps diagnose the cause of neurological symptoms.
Chat Gene Myasthenic Syndrome Congenital Genetic Test
Genetic test to identify mutations in the CHAT gene associated with congenital myasthenic syndromes, aiding in diagnosis and treatment planning.
ERLIN1 Gene SPG62 ERLIN1 Related Genetic Test
Genetic test analyzing the ERLIN1 gene for variations linked to hereditary neurological disorders, using Next-Generation Sequencing (NGS) technology.
Insulin Resistance and Acanthosis Nigricans Genetic Test
Understand your genetic risk for insulin resistance and related metabolic disorders with our advanced NGS DNA test. Ideal for individuals with diabetes symptoms or acanthosis nigricans.
GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test
Genetic test for Molybdenum Cofactor Deficiency Type C, caused by mutations in the GPHN gene. Helps diagnose metabolic disorders.
RBPJ Gene Adams-Oliver Syndrome Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the RBPJ gene for mutations associated with Adams-Oliver syndrome type 3. Aids in diagnosis and family planning.
LCK Gene Immunodeficiency Type 22 Genetic Test
The LCK Gene Immunodeficiency Type 22 NGS Genetic DNA Test identifies genetic predispositions to immunodeficiency disorders using Next Generation Sequencing (NGS). This test is valuable for individuals with a family history of immunodeficiency.
CRYAB Gene Cardiomyopathy Dilated Type 1 Genetic Test
Genetic test to identify mutations in the CRYAB gene associated with dilated cardiomyopathy, a condition affecting heart muscle function. Helps understand genetic risk for heart disease.
CFI Gene Hemolytic Uremic Syndrome Genetic Test
Genetic test to identify mutations in the CFI gene associated with Hemolytic Uremic Syndrome (HUS), a condition affecting the kidneys and blood. Helps in early detection and management.
PDGFRB Gene Myeloproliferative Disorder Chronic with Eosinophilia Genetic Test
This genetic test identifies mutations in the PDGFRB gene, aiding in the diagnosis of certain myeloproliferative disorders, particularly those associated with chronic eosinophilia. It uses Next-Generation Sequencing (NGS) technology.
AKT3 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the AKT3 gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Type 2, a severe neurodevelopmental disorder.
SMAD4 Gene Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome Genetic Test
Genetic test analyzing the SMAD4 gene to identify predispositions to Juvenile Polyposis and Hereditary Hemorrhagic Telangiectasia syndromes. Helps in early detection and management.
HLA A B DRB1 High Resolution
The HLA A B DRB1 High Resolution test analyzes key genes involved in immune response, crucial for organ transplant compatibility and understanding autoimmune conditions.
CCL3L1 Gene Load Test
The CCL3L1 Gene Load Test assesses your genetic predisposition to viral diseases by measuring the CCL3L1 gene load in your blood. This test can help inform early detection and management strategies.
Eukaryotic mRNA Sequencing and Reference Based Analysis
Eukaryotic mRNA Sequencing and Reference Based Analysis provides detailed insights into gene expression, aiding in the understanding and management of various health conditions. Confirm price with the laboratory before booking.
Kras Codon 61 Mutation Detection Test
The KRAS Codon 61 Mutation Detection Test identifies specific mutations in the KRAS gene, aiding oncologists in determining the most effective cancer treatment strategies for patients with certain types of cancer.
WDR36 Gene Glaucoma Open Angle Type 1G Genetic Test
Genetic test to identify mutations in the WDR36 gene associated with open-angle glaucoma, aiding in early detection and risk assessment.
SCN2A Gene Dravet Syndrome Genetic Test
Genetic test to identify mutations in the SCN2A gene associated with Dravet syndrome, a severe form of epilepsy. Helps in early diagnosis and management.
HSPD1 Gene Leukodystrophy Hypomyelinating Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the HSPD1 gene, associated with hypomyelinating leukodystrophy type 4. Helps diagnose specific neurological disorders.
CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test
The CHRNB1 Gene Myasthenic Syndrome Congenital NGS Genetic DNA Test helps diagnose congenital myasthenic syndromes linked to the CHRNB1 gene. This test uses Next Generation Sequencing (NGS) technology to analyze genetic data, providing important information for individuals with neurological disorders, especially those with a family history.
Entpd1 Gene Spg64 Genetic Test
The Entpd1 Gene Spg64 NGS Genetic DNA Test analyzes the ENTPD1 gene for variations linked to neurological disorders. This test uses Next Generation Sequencing (NGS) technology to provide insights into hereditary conditions affecting the nervous system.
GLIS3 Gene Diabetes Mellitus Neonatal Genetic Test
Genetic test for mutations in the GLIS3 gene associated with neonatal diabetes mellitus, using Next-Generation Sequencing (NGS) technology.
GNPTAB Gene Mucolipidosis Type 2 Alpha/Beta Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GNPTAB gene, associated with Mucolipidosis type 2 (ML2), a rare metabolic disorder. Helps confirm diagnosis and guide management.
EOGT Gene Adams-Oliver Syndrome Type 4 Genetic Test
Genetic test to identify mutations in the EOGT gene associated with Adams-Oliver syndrome, a condition involving limb and scalp abnormalities. This test aids in diagnosis and family planning.
CD247 Gene Immunodeficiency Type 25 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CD247 gene for mutations associated with immunodeficiency disorders. Helps identify potential genetic risks.
MYBPC3 Gene Cardiomyopathy Dilated Genetic Test
This genetic test analyzes the MYBPC3 gene to identify variations associated with dilated cardiomyopathy, a condition affecting the heart muscle. It helps assess genetic risk and guide management.
THBD Gene Hemolytic Uremic Syndrome Genetic Test
Genetic test to identify mutations in the THBD gene associated with Hemolytic Uremic Syndrome (HUS). Helps understand predisposition and inform management.
ELANE Gene Neutropenia Severe Congenital Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ELANE gene associated with Severe Congenital Neutropenia (SCN). Helps identify genetic predisposition and guides management.
ORC1 Gene Meier-Gorlin Syndrome Type 1 Genetic Test
Genetic test for mutations in the ORC1 gene associated with Meier-Gorlin syndrome. Helps in diagnosis and management.
PAX5 Gene Leukemia Acute Lymphoblastic Susceptibility Due to PAX5 Germline Mutation Genetic Test
This genetic test identifies mutations in the PAX5 gene, which may increase the risk of developing acute lymphoblastic leukemia (ALL). It uses Next Generation Sequencing (NGS) technology.
HLA A B C DRB1 DQB1 Low Resolution
The HLA A B C DRB1 DQB1 Low Resolution test assesses key human leukocyte antigens (HLA) crucial for immune response and organ transplant compatibility.
Eukaryotic Stranded mRNA Sequencing and Reference Based Analysis
Eukaryotic Stranded mRNA Sequencing and Reference Based Analysis provides detailed insights into gene expression and transcript variation. This advanced test helps understand complex biological processes and disease mechanisms.
Kras Mutation Codon 12 13 Test
The KRAS Mutation Codon 12 13 Test helps identify specific genetic changes in the KRAS gene, often found in certain cancers like colorectal cancer. This information can guide treatment decisions.
Opiates Confirmation Urine Test
The Opiates Confirmation Urine Test detects the presence of opiate substances in urine, aiding in the identification of substance use and guiding treatment decisions. This test uses advanced LC-MS/MS technology for accurate results.
CYP1B1 Gene Glaucoma Primary Type 3A Genetic Test
Genetic test to identify mutations in the CYP1B1 gene associated with Primary Congenital Glaucoma (PCG), a type of glaucoma present at birth or early childhood. This test helps assess risk for individuals with a family history.
SCN9A Gene Dravet Syndrome Modifier of Genetic Test
Genetic test analyzing the SCN9A gene to identify variations associated with Dravet syndrome, a severe form of epilepsy. Aids in diagnosis and management.
TUBB4A Gene Leukodystrophy Hypomyelinating Type 6 Genetic Test
Genetic test for mutations in the TUBB4A gene, associated with hypomyelinating leukodystrophy type 6, a neurological disorder. Helps in diagnosis and understanding potential risks.
CHRNE Gene Myasthenic Syndrome Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CHRNE gene, aiding in the diagnosis of congenital myasthenic syndromes. Confirm with the laboratory before booking.
ARSI Gene SPG66 ARSI Related Genetic Test
The ARSI Gene SPG66 test identifies genetic mutations linked to neurological disorders using Next-Generation Sequencing (NGS). This test can help diagnose conditions and inform management strategies, particularly for individuals with relevant symptoms or family history.
ABCC8 Gene Diabetes Mellitus Noninsulin-Dependent Genetic Test
Genetic test analyzing the ABCC8 gene to assess predisposition to noninsulin-dependent diabetes (Type 2). Helps understand genetic risk factors for diabetes.
SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency Genetic Test
Genetic test to identify mutations in the SLC16A1 gene, associated with Monocarboxylate Transporter 1 deficiency and related metabolic disorders. Helps in diagnosis and treatment planning.
SMARCAD1 Gene Adermatoglyphia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SMARCAD1 gene, associated with certain dermatological conditions. Confirm with the laboratory before booking.
CTPS1 Gene Immunodeficiency Type 24 Genetic Test
The CTPS1 Gene Immunodeficiency Type 24 NGS Genetic DNA Test identifies genetic mutations linked to immunodeficiency disorders using Next Generation Sequencing (NGS). Recommended for individuals with symptoms or a family history of related conditions.
LMNA Gene Cardiomyopathy Dilated Type 1A Genetic Test
Genetic test to identify mutations in the LMNA gene associated with Dilated Cardiomyopathy Type 1A, aiding in early detection and management of heart conditions.
CD46 Gene Hemolytic Uremic Syndrome Atypical Type 2 Susceptibility to Genetic Test
This genetic test analyzes the CD46 gene to identify susceptibility to atypical Hemolytic Uremic Syndrome (aHUS) type 2, a rare disorder affecting the kidneys. Utilizes Next-Generation Sequencing (NGS) technology.
HAX1 Gene Neutropenia Severe Congenital Type 3 Genetic Test
This genetic test identifies mutations in the HAX1 gene associated with Severe Congenital Neutropenia (SCN) Type 3, a condition causing low neutrophil levels and increased infection risk. It helps understand the genetic basis for diagnosis and management.
ORC4 Gene Meier-Gorlin Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the ORC4 gene associated with Meier-Gorlin syndrome, a disorder characterized by specific physical anomalies and developmental delays. Early diagnosis can inform management and treatment.
Kras Gene Leukemia Acute Myelogenous Genetic Test
This genetic test identifies mutations in the KRAS gene associated with acute myelogenous leukemia (AML), aiding oncologists in tailoring treatment strategies. Utilizes Next-Generation Sequencing (NGS) technology.
HLA A B DRB1 Low Resolution
The HLA A B DRB1 Low Resolution test identifies key genetic markers (HLA A, B, DRB1) important for immune system function, organ transplant compatibility, and understanding susceptibility to certain diseases.
Eukaryotic mRNA Sequencing and Reference Based Analysis Low Input
Eukaryotic mRNA Sequencing and Reference Based Analysis Low Input provides detailed insights into gene expression patterns, crucial for research and clinical understanding of biological processes.
GM1 Gangliosidosis Quantitative Blood Test
The GM1 Gangliosidosis Quantitative Blood Test helps diagnose a rare genetic disorder affecting metabolism. Early detection allows for timely management.
OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia Genetic Test
This genetic test identifies mutations in the OAT gene, linked to gyrate atrophy, a hereditary condition causing vision impairment. It helps diagnose and manage ophthalmological disorders.
FRRS1L Gene Dysautonomia FRRS1L-related Genetic Test
This genetic test analyzes the FRRS1L gene to identify variations associated with dysautonomia, a condition affecting the autonomic nervous system. It helps understand potential genetic predispositions to neurological disorders.
FAM126A Gene Leukodystrophy Hypomyelinating Type 5 Genetic Test
This genetic test identifies mutations in the FAM126A gene, associated with leukodystrophy, a neurological disorder affecting myelin development. Utilizes Next-Generation Sequencing (NGS) for accurate analysis.
CHRNA1 Gene Myasthenic Syndrome Congenital Slow Channel Genetic Test
Genetic test to identify mutations in the CHRNA1 gene associated with congenital myasthenic syndromes, using Next Generation Sequencing (NGS).
FLRT1 Gene SPG68 FLRT1 Related Genetic Test
The FLRT1 Gene SPG68 Genetic Test uses Next-Generation Sequencing (NGS) to identify genetic variations in the FLRT1 gene associated with certain neurological disorders. This test can help individuals with symptoms or a family history of neurological conditions understand their genetic risks.
AKT2 Gene Diabetes Mellitus Noninsulin-Dependent Genetic Test
Understand your genetic risk for Type 2 diabetes with the AKT2 Gene Diabetes Mellitus Noninsulin-Dependent NGS Genetic DNA Test. This test analyzes variations in the AKT2 gene linked to metabolic disorders.
GNPTAB Gene Mucolipidosis Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GNPTAB gene associated with Mucolipidosis type 3, a metabolic disorder.
Lrmda Gene Albinism Oculocutaneous Type 7 Genetic Test
Genetic test to identify mutations in the LRMDA gene associated with Oculocutaneous Albinism Type 7. Helps understand genetic risks and guide management.
CD40 Gene Immunodeficiency Type 3 With HyperIgM Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CD40 gene associated with Hyper-IgM syndrome, a type of immunodeficiency disorder.
ACTN2 Gene Cardiomyopathy Dilated Type 1AA Genetic Test
This genetic test analyzes the ACTN2 gene to identify potential risks for Dilated Cardiomyopathy Type 1AA. It uses Next-Generation Sequencing (NGS) technology to detect gene mutations linked to this heart condition.
SCO1 Gene Hepatic Failure Early Onset and Neurologic Disorder Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SCO1 gene, identifying mutations linked to early-onset liver failure and neurological disorders. Helps assess risk and guide management.
CSF3R Gene Neutrophilia Hereditary Genetic Test
Genetic test analyzing the CSF3R gene for hereditary neutrophilia using Next-Generation Sequencing (NGS). Helps identify genetic predispositions to hematological conditions.
Cdt1 Gene Meier-Gorlin Syndrome Type 4 Genetic Test
Genetic test to identify mutations in the Cdt1 gene associated with Meier-Gorlin syndrome, a rare disorder affecting physical development. This test uses Next-Generation Sequencing (NGS) technology.
JAK2 Gene Leukemia Acute Myelogenous Genetic Test
This genetic test identifies mutations in the JAK2 gene, which can be associated with acute myelogenous leukemia (AML). It uses Next Generation Sequencing (NGS) technology to help guide treatment decisions.
HLA-B*1502 Genotyping Carbamazepine
The HLA-B*1502 Genotyping Carbamazepine test assesses genetic risk factors for serious skin reactions to Carbamazepine medication. Particularly relevant for individuals of Asian descent.
Chlamydia Trachomatis RNA Detection Qualitative Test
Detect the presence of Chlamydia Trachomatis RNA using a sensitive Real Time PCR test. Essential for diagnosing this common STI and enabling timely treatment to prevent complications.
Eukaryotic mRNA Sequencing and Reference Based Analysis Ultra Low Input
Comprehensive analysis of gene expression using advanced mRNA sequencing technology. Provides insights into cellular functions and potential disease mechanisms.
Bcell Rearrangement Detection Test
The Bcell Rearrangement Detection Test helps diagnose leukemia by identifying genetic changes in B cells. It's a key tool for hematologists and oncologists.
Organic Acids Urine Test
The Organic Acids Urine Test helps identify metabolic disorders and inborn errors of metabolism by measuring organic acid levels in urine. This test provides insights into your body's metabolic processes.
Tacrolimus Genotyping CYP3A5 Test
The Tacrolimus Genotyping CYP3A5 Test helps personalize Tacrolimus medication dosage for organ transplant patients by identifying genetic variations affecting drug metabolism. This aids in optimizing treatment and reducing side effects.
LTBP2 Gene Glaucoma Primary Type 3D Genetic Test
Genetic test analyzing the LTBP2 gene to identify predisposition to Primary Glaucoma Type 3D. Uses Next-Generation Sequencing (NGS) technology.
ADCY5 Gene Dyskinesia Familial with Facial Myokymia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ADCY5 gene associated with familial dyskinesia and facial myokymia. Helps diagnose genetic causes of neurological symptoms.
POLR3A Gene Leukodystrophy Hypomyelinating Type 7 Genetic Test
Genetic test to identify mutations in the POLR3A gene associated with hypomyelinating leukodystrophy, a rare neurological disorder. Helps in diagnosis and management.
CHRNA1 Gene Myasthenic Syndrome Congenital Fast Channel Genetic Test
Genetic test to identify mutations in the CHRNA1 gene associated with congenital myasthenic syndromes, aiding in the diagnosis of unexplained muscle weakness and fatigue.
SPG7 Gene SPG7 Genetic Test
The SPG7 Gene Genetic Test identifies mutations in the SPG7 gene, linked to certain neurological disorders like hereditary spastic paraplegia. This test uses Next-Generation Sequencing (NGS) technology for accurate genetic analysis.
KCNJ11 Gene Diabetes Mellitus Noninsulin-Dependent Genetic Test
This genetic test analyzes the KCNJ11 gene to identify mutations associated with an increased risk of noninsulin-dependent diabetes mellitus (Type 2 diabetes). It uses Next Generation Sequencing (NGS) technology.
MCOLN1 Gene Mucolipidosis Type 4 Genetic Test
Genetic test to detect mutations in the MCOLN1 gene, associated with the rare metabolic disorder Mucolipidosis Type 4 (ML4).
HR Gene Alopecia Universalis Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the HR gene for variations associated with alopecia universalis. Helps understand genetic risk factors for complete hair loss.
IRF8 Gene Immunodeficiency Type 32A Mycobacteriosis Autosomal Dominant Genetic Test
Genetic test to identify mutations in the IRF8 gene associated with a rare immunodeficiency disorder, increasing susceptibility to mycobacterial infections. Utilizes Next Generation Sequencing (NGS) technology.
Dsg2 Gene Cardiomyopathy Dilated Type 1BB Genetic Test
Genetic test analyzing the DSG2 gene for mutations linked to dilated cardiomyopathy, a condition affecting heart muscle function. Uses Next-Generation Sequencing (NGS) for accurate results.
UGT1A1 Gene Hyperbilirubinemia Familial Transient Neonatal Genetic Test
Genetic test to identify mutations in the UGT1A1 gene associated with familial transient neonatal hyperbilirubinemia, helping to assess risk in newborns.
FLI1 Gene Platelet Dense Granule Secretion Defect Excessive Bleeding Genetic Test
This genetic test analyzes the FLI1 gene to help diagnose the cause of excessive bleeding related to platelet function defects. It uses Next Generation Sequencing (NGS) technology.
INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis Genetic Test
Genetic test analyzing the INPP5E gene to help diagnose conditions associated with developmental disorders, including mental retardation, truncal obesity, retinal dystrophy, and micropenis. Uses Next-Generation Sequencing (NGS) technology.
KIT Gene Leukemia Acute Myeloid Genetic Test
This genetic test identifies mutations in the KIT gene associated with acute myeloid leukemia (AML) using Next Generation Sequencing (NGS). It helps guide personalized treatment and understand disease prognosis.
HLA-B*57:01 Genotyping for Abacavir Hypersensitivity
The HLA-B*57:01 Genotyping test identifies individuals at risk of hypersensitivity reactions to the HIV medication Abacavir. This genetic test helps ensure safe and effective treatment.
Eukaryotic mRNA Sequencing and De Novo Analysis
Advanced genomic test analysing gene expression in eukaryotic organisms using next-generation sequencing. Provides insights into gene regulation and expression.
GM2 Gangliosidosis Quantitative Blood Tay Sachs Sandhoff Disease Test
This test measures enzyme activity in the blood to help diagnose GM2 Gangliosidosis, including Tay-Sachs and Sandhoff disease. Early detection aids in management and planning.
Orotic Acid Test
The Orotic Acid Test measures orotic acid levels in urine to help diagnose certain inborn errors of metabolism, particularly in children.
Tacrolimus FK506 Test
The Tacrolimus FK506 Test measures the amount of Tacrolimus medication in your blood. This test is important for patients who have received organ transplants, particularly kidney transplants, to ensure the medication level is correct for preventing rejection and avoiding side effects.
HPS4 Gene Hermansky Pudlak Syndrome Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HPS4 gene, aiding in the diagnosis of Hermansky Pudlak Syndrome (HPS).
PDE10A Gene Dyskinesia Limb and Orofacial Infantile-Onset Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PDE10A gene associated with infantile-onset limb and orofacial dyskinesia. Helps diagnose neurological disorders in infants.
POLR3B Gene Leukodystrophy Hypomyelinating Type 8 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the POLR3B gene associated with hypomyelinating leukodystrophy type 8, a rare neurological disorder. Confirm with the laboratory before booking.
RAPSN Gene Myasthenic Syndrome Congenital Type 11 Associated with Acetylcholine Receptor Deficiency Genetic Test
Genetic test to identify mutations in the RAPSN gene associated with Congenital Myasthenic Syndrome Type 11. Uses Next Generation Sequencing (NGS) technology.
ZFR Gene SPG71 ZFR Related Genetic Test
Genetic test to identify mutations in the ZFR gene associated with certain neurological disorders using Next Generation Sequencing (NGS).
ABCC8 Gene Diabetes Mellitus Transient Neonatal Type 2 Genetic Test
Genetic test for the ABCC8 gene to identify predispositions to transient neonatal diabetes mellitus, a type of metabolic disorder. Helps understand genetic risk factors for diabetes.
GNPTG Gene Mucolipidosis Type 3 Gamma Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GNPTG gene associated with Mucolipidosis Type 3 Gamma, a rare metabolic disorder. Helps in diagnosis, treatment guidance, and family planning.
LAMB3 Gene Amelogenesis Imperfecta Type 1A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the LAMB3 gene for mutations associated with Amelogenesis Imperfecta Type 1A, a condition affecting dental enamel development.
IRF8 Gene Immunodeficiency Type 32B Monocyte and Dendritic Cell Deficiency Autosomal Recessive Genetic Test
Genetic test for IRF8 gene mutations associated with Immunodeficiency Type 32B, affecting monocyte and dendritic cell function. Helps identify predisposition to immunodeficiency disorders.
NEXN Gene Cardiomyopathy Dilated Type 1CC Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NEXN gene associated with dilated cardiomyopathy. Helps assess risk and guide management.
KCNJ5 Gene Hyperaldosteronism Type 3 Genetic Test
Genetic test to identify mutations in the KCNJ5 gene associated with hyperaldosteronism type 3, a cause of high blood pressure. This test helps diagnose the condition and guide treatment.
PEAR1 Gene Platelet Aggregation Disorder Genetic Test
The PEAR1 Gene Platelet Aggregation Disorder NGS Genetic DNA Test analyzes the PEAR1 gene to identify potential platelet aggregation disorders. This test is vital for individuals with a family history of hematological issues or those experiencing unexplained bleeding or clotting problems.
MMP13 Gene Metaphyseal Anadysplasia Type 1 Genetic Test
This genetic test identifies mutations in the MMP13 gene associated with metaphyseal anadysplasia type 1, a condition affecting bone and cartilage development. It uses advanced Next-Generation Sequencing (NGS) technology.
RUNX1 Gene Leukemia Acute Myeloid Genetic Test
Genetic test to identify mutations in the RUNX1 gene associated with acute myeloid leukemia (AML). Helps guide treatment and risk assessment.
Human Papilloma Virus HPV Genotype
The Human Papilloma Virus (HPV) Genotype test identifies specific high-risk strains of HPV associated with cervical cancer, aiding in early detection and management. Confirm with the laboratory before booking.
Eukaryotic Small RNA Sequencing and Analysis
Eukaryotic Small RNA Sequencing and Analysis provides detailed insights into gene regulation and expression by analyzing small RNA molecules. This advanced genetic test is valuable for research and clinical diagnostics.
RB1 Gene Hereditary Retinoblastoma Genetic Test
Genetic test to identify mutations in the RB1 gene associated with hereditary retinoblastoma, a childhood eye cancer. Uses Next Generation Sequencing (NGS) for comprehensive analysis.
HSPG2 Gene Dyssegmental Dysplasia Silverman-Handmaker Type Genetic Test
Genetic test to identify mutations in the HSPG2 gene associated with Silverman-Handmaker type dyssegmental dysplasia, a condition affecting skeletal development and potentially causing neurological disorders.
RARS Gene Leukodystrophy Hypomyelinating Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RARS gene associated with Hypomyelinating Leukodystrophy Type 9, a neurological disorder. Confirm with the laboratory before booking.
DOK7 Gene Myasthenic Syndrome Congenital Type 10 Genetic Test
Genetic test to identify mutations in the DOK7 gene associated with Congenital Myasthenic Syndrome Type 10. Helps diagnose muscle weakness and fatigue, especially with a family history.
Reep2 Gene Spg72 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the REEP2 gene for mutations associated with neurological disorders like hereditary spastic paraplegia.
ABCC8 Gene Diabetes Mellitus Permanent Neonatal Genetic Test
Genetic test for mutations in the ABCC8 gene associated with permanent neonatal diabetes mellitus, using Next-Generation Sequencing (NGS).
IDS Gene Mucopolysaccharidosis Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the IDS gene associated with Mucopolysaccharidosis Type 2 (MPS II), a rare metabolic disorder. Aids in early diagnosis and management.
ENAM Gene Amelogenesis Imperfecta Type 1B Genetic Test
Genetic test to identify mutations in the ENAM gene associated with Amelogenesis Imperfecta Type 1B, a condition affecting tooth enamel development.
CYBB Gene Immunodeficiency Type 34 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CYBB gene for mutations associated with X-linked severe combined immunodeficiency (X-SCID). Helps identify predisposition to immunodeficiency disorders.
LDB3 Gene Cardiomyopathy Dilated Type 1C Genetic Test
Genetic test to identify mutations in the LDB3 gene associated with dilated cardiomyopathy (DCM), a condition affecting heart function. Useful for individuals with a family history of heart conditions.
SLCO1B1 Gene Hyperbilirubinemia Rotor Type Genetic Test
Genetic test to identify mutations in the SLCO1B1 gene associated with hyperbilirubinemia (elevated bilirubin levels). Helps understand genetic risks for liver-related conditions.
RUNX1 Gene Platelet Disorder With Associated Myeloid Malignancy Genetic Test
Genetic test to identify RUNX1 gene mutations linked to platelet disorders and myeloid malignancies. Helps in diagnosis and treatment planning.
MMP9 Gene Metaphyseal Anadyplasia Type 2 Genetic Test
This genetic test identifies mutations in the MMP9 gene associated with metaphyseal anadyplasia type 2, a condition affecting skeletal development. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
Cebpa Gene Leukemia Acute Myeloid Somatic Genetic Test
Detects mutations in the CEBPA gene associated with Acute Myeloid Leukemia (AML) using Next Generation Sequencing (NGS) technology. This test aids in diagnosis, treatment planning, and genetic counseling for AML.
HLA-DRB1*1501 Genotyping Multiple Sclerosis
The HLA-DRB1*1501 Genotyping test identifies a specific genetic marker linked to an increased risk of developing Multiple Sclerosis (MS). This test can help individuals understand their genetic predisposition, particularly those with a family history or symptoms suggestive of MS.
Eukaryotic mRNA Sequencing
Eukaryotic mRNA Sequencing analyzes gene expression in eukaryotic organisms, providing insights into cellular functions and disease mechanisms. This test is valuable for research and clinical applications.
Cytomegalovirus CMV DNA Quantitative PCR Test
Detects and quantifies Cytomegalovirus (CMV) DNA in the blood, crucial for monitoring infections in immunocompromised individuals.
HPS1 Gene Hermansky-Pudlak Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the HPS1 gene associated with Hermansky-Pudlak Syndrome Type 1, aiding in diagnosis and management.
PCDH11X Gene Dyslexia Genetic Test
The PCDH11X Gene Dyslexia NGS Genetic DNA Test uses advanced sequencing technology to analyze the PCDH11X gene, which may be linked to dyslexia. This test can provide insights into potential genetic factors associated with this learning disorder.
SCP2 Gene Leukoencephalopathy with Dystonia and Motor Neuropathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SCP2 gene, associated with leukoencephalopathy, dystonia, and motor neuropathy. Helps diagnose rare neurological disorders.
SLC5A7 Gene Myasthenic Syndrome Congenital Type 20 Presynaptic Genetic Test
Genetic test to identify mutations in the SLC5A7 gene associated with Congenital Myasthenic Syndrome Type 20. Aids in diagnosis and management of neurological disorders.
CPT1C Gene SPG73 Genetic Test
The CPT1C Gene SPG73 NGS Genetic DNA Test uses Next Generation Sequencing to analyze the CPT1C gene, identifying potential genetic links to neurological disorders. This test provides valuable information for individuals with relevant symptoms or family history.
IGF2 Gene Diabetes IGF2 Related Genetic Test
The IGF2 Gene Diabetes test uses Next-Generation Sequencing (NGS) to identify genetic predispositions to diabetes. This test analyzes specific genetic markers related to metabolic disorders, providing insights for early intervention and personalized healthcare.
IDUA Gene Mucopolysaccharidosis Type 1H Genetic Test
Genetic test to identify mutations in the IDUA gene associated with Mucopolysaccharidosis Type 1H (MPS I-H), a rare metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
AMELX Gene Amelogenesis Imperfecta Type 1E Genetic Test
Genetic test to identify mutations in the AMELX gene associated with Amelogenesis Imperfecta Type 1E, a condition affecting tooth enamel development.
TYK2 Gene Immunodeficiency Type 35 Genetic Test
The TYK2 Gene Immunodeficiency Type 35 NGS Genetic DNA Test identifies genetic variations in the TYK2 gene associated with immunodeficiency disorders. This test uses Next Generation Sequencing (NGS) technology.
TNNT2 Gene Cardiomyopathy Dilated Type 1D Genetic Test
Genetic test to identify mutations in the TNNT2 gene associated with dilated cardiomyopathy, a condition affecting heart muscle function. Helps in diagnosis and treatment planning.
SLCO1B3 Gene Hyperbilirubinemia Rotor Type Genetic Test
This genetic test analyzes the SLCO1B3 gene to identify variations linked to hyperbilirubinemia (high bilirubin levels), aiding in the diagnosis and management of related liver conditions.
CD36 Gene Platelet Glycoprotein IV Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CD36 gene associated with platelet glycoprotein IV deficiency, a condition affecting blood clotting. Essential for individuals with a family history of bleeding disorders.
PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PCNT gene for mutations associated with Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2).
Ptpn11 Gene Leukemia Juvenile Myelomonocytic Genetic Test
Genetic test to detect mutations in the PTPN11 gene associated with juvenile myelomonocytic leukemia (JMML). Aids in diagnosis and treatment planning.
Human Papiloma Virus HPV Qualitative PCR
Detects the presence of Human Papiloma Virus (HPV), a common infection linked to various cancers, using a sensitive PCR test. Early detection is key for management.
Eukaryotic Stranded mRNA Sequencing
Eukaryotic Stranded mRNA Sequencing provides a detailed analysis of gene expression in eukaryotic cells, offering insights into biological processes and disease mechanisms. Confirm with the laboratory before booking.
AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 Genetic Test
This genetic test identifies mutations in the AP3B1 gene associated with Hermansky-Pudlak Syndrome Type 2, a rare disorder affecting vision, bleeding, and lungs. Confirm with the laboratory before booking.
SPR Gene Dystonia DOPAresponsive Autosomal Recessive Genetic Test
Genetic test for DOPA-responsive dystonia caused by mutations in the SPR gene. Helps diagnose and guide treatment for this neurological disorder.
DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the DARS2 gene, associated with a rare neurological disorder involving the brainstem, spinal cord, and elevated lactate levels.
CHRND Gene Myasthenic Syndrome Congenital Type 3A Slow Channel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CHRND gene associated with Congenital Myasthenic Syndrome Type 3A (Slow Channel). Helps diagnose the cause of muscle weakness and fatigue.
WASHC5 Gene SPG8 Genetic Test
Genetic test analyzing the WASHC5 gene for mutations linked to Spastic Paraplegia Type 8 (SPG8), a hereditary neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
Spint2 Gene Diarrhea Type 3 Secretory Sodium Congenital Syndromic Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SPINT2 gene associated with Diarrhea Type 3, a congenital syndromic condition. Helps diagnose metabolic disorders linked to chronic diarrhea.
SGSH Gene Mucopolysaccharidosis Type 3A Genetic Test
Genetic test to identify mutations in the SGSH gene associated with Mucopolysaccharidosis Type 3A (MPS IIIA), a rare metabolic disorder. Helps in early diagnosis and management.
ENAM Gene Amelogenesis Imperfecta Type 1C Genetic Test
This genetic test identifies mutations in the ENAM gene associated with Amelogenesis Imperfecta Type 1C, a condition affecting dental enamel formation. It uses Next-Generation Sequencing (NGS) for detailed analysis.
ISG15 Gene Immunodeficiency Type 38 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ISG15 gene associated with immunodeficiency disorders. Helps understand the cause of immunological issues.
SCN5A Gene Cardiomyopathy Dilated Type 1E Genetic Test
Genetic test to identify mutations in the SCN5A gene associated with dilated cardiomyopathy, a condition affecting heart muscle function. Useful for individuals with a family history or symptoms of heart disease.
CDC73 Gene Hyperparathyroidism Type 1 Familial Genetic Test
Genetic test to identify mutations in the CDC73 gene associated with Familial Hyperparathyroidism Type 1. Helps understand predisposition and guide management.
SMARCAL1 Gene Schimke Immunoosseous Dysplasia Genetic Test
This genetic test identifies mutations in the SMARCAL1 gene associated with Schimke immunoosseous dysplasia, a rare disorder affecting the immune system and skeleton. It uses Next Generation Sequencing (NGS) technology.
WDR62 Gene Microcephaly with Cortical Malformations Autosomal Recessive Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the WDR62 gene, associated with microcephaly and cortical malformations. Aids in diagnosis and management.
ZBTB16 Gene Leukemia Acute Promyelocytic PL2FRARA Type Genetic Test
This genetic test identifies specific mutations in the ZBTB16 gene associated with acute promyelocytic leukemia (APL), aiding in diagnosis and treatment planning.
Huntington Disease HD Mutation Screening
Huntington Disease HD mutation screening identifies genetic mutations linked to Huntington's Disease, helping individuals understand their risk, especially with a family history.
Eukaryotic mRNA Sequencing Low Input
Analyze gene expression levels in small RNA samples using the Eukaryotic mRNA Sequencing Low Input test. Provides insights into cellular functions for disease diagnosis and research.
Cytomegalovirus CMV Qualitative PCR Test
Detects the presence of Cytomegalovirus (CMV) DNA in body fluids using PCR. Important for pregnant women, transplant recipients, and those with weakened immune systems.
HPS3 Gene Hermansky Pudlak Syndrome Type 3 Genetic Test
The HPS3 Gene Hermansky Pudlak Syndrome Type 3 NGS Genetic DNA Test uses Next-Generation Sequencing (NGS) to identify mutations in the HPS3 gene, aiding in the diagnosis of Hermansky-Pudlak syndrome, a rare genetic disorder. This test is particularly relevant for individuals with symptoms or a family history of the condition.
ACTB Gene Dystonia Juvenile-Onset Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ACTB gene associated with juvenile-onset dystonia, a neurological movement disorder.
EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EIF2B2 gene associated with leukoencephalopathy with vanishing white matter (VWML).
CHRND Gene Myasthenic Syndrome Congenital Type 3B Fastchannel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CHRND gene associated with Congenital Myasthenic Syndrome Type 3B (Fastchannel). Helps diagnose muscle weakness and fatigue.
MYOT Gene Spheroid Body Myopathy Genetic Test
This genetic test identifies mutations in the MYOT gene associated with spheroid body myopathy, a rare condition causing muscle weakness. Utilizes Next Generation Sequencing (NGS) for accurate detection.
SLC26A3 Gene Diarrhea Type 1 Secretory Chloride Congenital Genetic Test
This genetic test identifies mutations in the SLC26A3 gene, which cause congenital chloride diarrhea (CCD), a rare metabolic disorder characterized by severe diarrhea and electrolyte imbalances. Early diagnosis helps guide management.
NAGLU Gene Mucopolysaccharidosis Type 3B Genetic Test
Genetic test to identify mutations in the NAGLU gene, associated with Mucopolysaccharidosis Type 3B (MPS IIIB), a rare metabolic disorder. Helps in diagnosis and family planning.
AMBN Gene Amelogenesis Imperfecta Type 1F Genetic Test
Genetic test for mutations in the AMBN gene associated with Amelogenesis Imperfecta Type 1F, a condition affecting dental enamel development.
Pik3R1 Gene Immunodeficiency Type 36 Genetic Test
The Pik3R1 Gene Immunodeficiency Type 36 NGS Genetic DNA Test uses Next Generation Sequencing (NGS) to analyze the PIK3R1 gene, helping identify genetic predispositions to immunodeficiency disorders. This test is important for individuals with a family history of immunological conditions.
RBM20 Gene Cardiomyopathy Dilated Type 1DD Genetic Test
Genetic test to identify mutations in the RBM20 gene associated with dilated cardiomyopathy (DCM), a serious heart condition. This test uses Next Generation Sequencing (NGS) technology.
CASR Gene Hyperparathyroidism Neonatal Severe Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CASR gene associated with severe neonatal hyperparathyroidism. Helps in early diagnosis and management.
Apoe Gene Seablue Histiocyte Disease Genetic Test
The APOE Gene Seablue Histiocyte Disease NGS Genetic DNA Test identifies genetic markers associated with Seablue histiocyte disease using Next Generation Sequencing (NGS). This test is important for individuals with a family history or symptoms related to this condition.
TUBGCP6 Gene Microcephaly and Chorioretinopathy with or without Mental Retardation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TUBGCP6 gene associated with microcephaly, chorioretinopathy, and potential developmental delays.
EZH2 Gene Leukemia Lymphoblastic and Myeloid EZH2 Related Genetic Test
The EZH2 Gene Leukemia test uses Next Generation Sequencing (NGS) to identify genetic mutations in the EZH2 gene associated with lymphoblastic and myeloid leukemia. This test provides valuable information for understanding cancer risk and guiding personalized treatment.
Eukaryotic mRNA Sequencing Ultra Low Input
Comprehensive analysis of gene expression using advanced sequencing technology, ideal for research and clinical applications. Priced at KSh 50,000.
Ataxia Comprehensive Panel Genetic Test
Comprehensive genetic testing using Next Generation Sequencing (NGS) to identify mutations associated with various forms of ataxia, a neurological disorder affecting coordination and balance. Helps diagnose and guide management.
TIMM8A Gene Dystonia-Deafness Syndrome Genetic Test
This genetic test identifies mutations in the TIMM8A gene associated with Dystonia-Deafness Syndrome, a condition affecting movement and hearing. Utilising Next Generation Sequencing (NGS) technology.
EIF2B1 Gene Leukoencephalopathy with Vanishing White Matter Genetic Test
Genetic test to identify mutations in the EIF2B1 gene associated with Leukoencephalopathy with Vanishing White Matter, a rare neurological disorder. Aids in diagnosis and family counseling.
CHRND Gene Myasthenic Syndrome Congenital Type 3C Associated with Acetylcholine Receptor Deficiency Genetic Test
Genetic test for CHRND gene mutations associated with Congenital Myasthenic Syndrome Type 3C (acetylcholine receptor deficiency). Helps diagnose neuromuscular disorders.
AR Gene Spinal and Bulbar Muscular Atrophy Xlinked Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the AR gene associated with Spinal and Bulbar Muscular Atrophy (SBMA), a neurological disorder. Recommended for individuals with a family history or symptoms.
Neurog3 Gene Diarrhea Type 4 Malabsorptive Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the Neurog3 gene associated with congenital diarrhea and malabsorption disorders.
HGSNAT Gene Mucopolysaccharidosis Type 3C Genetic Test
Genetic test for Mucopolysaccharidosis type 3C (MPS 3C) caused by mutations in the HGSNAT gene. Uses Next-Generation Sequencing (NGS) for accurate diagnosis.
FAM20A Gene Amelogenesis Imperfecta Type 1G Genetic Test
Genetic test to identify variations in the FAM20A gene associated with Amelogenesis Imperfecta Type 1G, a condition affecting dental enamel development.
RORC Gene Immunodeficiency Type 42 Genetic Test
This genetic test identifies mutations in the RORC gene associated with immunodeficiency disorders using Next-Generation Sequencing (NGS). It helps individuals with a family history or symptoms understand their risk.
MYH6 Gene Cardiomyopathy Dilated Type 1EE Genetic Test
This genetic test identifies mutations in the MYH6 gene associated with dilated cardiomyopathy, a type of heart disease. It helps assess risk for individuals with a family history or symptoms.
CDC73 Gene Hyperparathyroidism Type 2 Familial Genetic Test
Genetic test to identify mutations in the CDC73 gene associated with familial hyperparathyroidism, helping assess risk and inform health management.
JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type Genetic Test
Genetic test to identify mutations in the JAK3 gene associated with Severe Combined Immunodeficiency (SCID), a serious immune system disorder. Uses Next-Generation Sequencing (NGS) technology.
IER3IP1 Gene Microcephaly with Epilepsy and Diabetes Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the IER3IP1 gene, associated with microcephaly, epilepsy, and diabetes syndrome.
Cebpa Gene Leukemia Myeloid Acute Form Due To Cebpa Germline Mutation Genetic Test
Genetic test to detect mutations in the CEBPA gene, associated with an increased risk of acute myeloid leukemia (AML). Helps guide diagnosis and treatment.
EpsteinBarr Virus EBV Viral Load Quantitative Test
Measures the amount of Epstein-Barr Virus (EBV) in your blood to help diagnose and monitor EBV infections and related conditions.
Eukaryotic SmallRNA Sequencing
Eukaryotic SmallRNA Sequencing analyzes small RNA molecules to provide insights into gene expression and regulation. This advanced genetic test can aid in understanding various health conditions.
Dpd Gene Mutations 5Fu Toxicity Detection Test
This genetic test identifies mutations in the DPD gene, helping predict the risk of severe side effects from the chemotherapy drug 5-fluorouracil (5FU).
Amyotrophic Lateral Sclerosis ALS Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations associated with Amyotrophic Lateral Sclerosis (ALS), a progressive neurological disorder. Helps in diagnosis and understanding risk.
PRRT2 Gene DYT10 Genetic Test
The PRRT2 Gene DYT10 NGS Genetic DNA Test identifies mutations in the PRRT2 gene associated with certain neurological disorders, aiding diagnosis and management.
EIF2B4 Gene Leukoencephalopathy with Vanishing White Matter Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the EIF2B4 gene associated with Leukoencephalopathy with Vanishing White Matter (VWM), a rare neurological disorder.
DRD2 Gene Myoclonic Dystonia DRD2 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DRD2 gene associated with myoclonic dystonia. Helps in diagnosing genetic predispositions to this neurological disorder.
Plekhg5 Gene Spinal Muscular Atrophy Distal Autosomal Recessive Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PLEKHG5 gene, associated with Distal Autosomal Recessive Type 4 Spinal Muscular Atrophy (SMA). Helps in diagnosis and family planning.
DPYD Gene Dihydropyrimidine Dehydrogenase Deficiency Genetic Test
Genetic test to identify DPYD gene mutations, which can affect how the body processes certain chemotherapy drugs. Helps tailor cancer treatment to reduce severe side effects.
GNS Gene Mucopolysaccharidosis Type 3D Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GNS gene associated with Mucopolysaccharidosis type 3D (MPS III D), a rare metabolic disorder. Recommended for individuals with symptoms or a family history of MPS III D.
ITGB6 Gene Amelogenesis Imperfecta Type 1H Genetic Test
Genetic test to identify mutations in the ITGB6 gene associated with Amelogenesis Imperfecta Type 1H, a condition affecting dental enamel development.
Coro1A Gene Immunodeficiency Type 8 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CORO1A gene associated with immunodeficiency disorders. Helps in early diagnosis and management.
TTN Gene Cardiomyopathy Dilated Type 1G Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TTN gene associated with dilated cardiomyopathy. Helps understand genetic risk for heart conditions.
GPD1 Gene Hypertriglyceridemia Transient Infantile Genetic Test
Genetic test to identify mutations in the GPD1 gene associated with transient infantile hypertriglyceridemia, aiding in early diagnosis and management.
SBDS Gene Shwachman-Diamond Syndrome Genetic Test
Genetic test to identify mutations in the SBDS gene, aiding in the diagnosis of Shwachman-Diamond Syndrome (SDS), a rare disorder affecting bone marrow and pancreas.
KIF11 Gene Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation MCLMR Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KIF11 gene, associated with microcephaly, chorioretinopathy, lymphedema, and mental retardation (MCLMR).
TP53 Gene Li-Fraumeni Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the TP53 gene, associated with an increased risk of developing various cancers, particularly Li-Fraumeni Syndrome Type 1. It is recommended for individuals with a significant family history of cancer.
IDH1 IDH2 Mutation Analysis
The IDH1 IDH2 Mutation Analysis is a genetic test to detect mutations in the IDH1 and IDH2 genes, often linked to certain cancers like gliomas and AML. This information can help guide treatment decisions.
Sequencing Library QCqPCR
Assess the quality and quantity of DNA samples before sequencing with the Sequencing Library QCqPCR test. Essential for accurate genetic analysis.
Ataxia Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations associated with ataxia, a neurological disorder affecting coordination. Aids in diagnosis and management.
TOR1A Gene DYT1 Genetic Test
Genetic test for mutations in the TOR1A gene associated with Dystonia, a neurological disorder. Utilizes Next Generation Sequencing (NGS) technology.
EIF2B5 Gene Leukoencephalopathy with Vanishing White Matter Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EIF2B5 gene associated with Leukoencephalopathy with Vanishing White Matter, a rare neurological disorder. Helps in diagnosis and management.
EPM2A Gene Myoclonic Epilepsy of Lafora Genetic Test
Genetic test to identify mutations in the EPM2A gene, associated with Lafora disease, a severe neurological disorder. Utilizes Next-Generation Sequencing (NGS) technology.
SMN1 Gene Spinal Muscular Atrophy Type 1 Genetic Test
Genetic test to detect mutations in the SMN1 gene associated with Spinal Muscular Atrophy (SMA) Type 1, a severe neuromuscular disorder. Early diagnosis is crucial for management.
DPYS Gene Dihydropyrimidinuria Genetic Test
The DPYS Gene Dihydropyrimidinuria NGS Genetic DNA Test identifies genetic mutations linked to dihydropyrimidinuria, a metabolic disorder. This test uses Next Generation Sequencing (NGS) to provide insights into genetic predispositions, aiding in diagnosis and management. Confirm with the laboratory before booking.
GALNS Gene Mucopolysaccharidosis Type 4A Genetic Test
Genetic test to identify mutations in the GALNS gene, associated with Mucopolysaccharidosis Type 4A (MPS IV A), a rare metabolic disorder. Early diagnosis aids management.
MMP20 Gene Amelogenesis Imperfecta Type 2A2 Genetic Test
Genetic test for mutations in the MMP20 gene associated with Amelogenesis Imperfecta Type 2A2, a condition affecting dental enamel development. Helps identify genetic predisposition for tailored dental care.
Ung Gene Immunodeficiency Type 5 with Hyper IgM Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the UNG gene associated with Immunodeficiency Type 5 with Hyper IgM syndrome. Helps diagnose immune disorders.
SDHA Gene Cardiomyopathy Dilated Type 1GG Genetic Test
Genetic test to identify mutations in the SDHA gene associated with dilated cardiomyopathy, a condition affecting the heart muscle. Helps individuals with a family history understand their risk.
UMOD Gene Hyperuricemic Nephropathy Familial Juvenile Type 1 Genetic Test
Genetic test to identify mutations in the UMOD gene associated with hyperuricemic nephropathy, a kidney disorder often seen in young people. Helps in early diagnosis and management.
HBB Gene Sickle Cell Anemia Genetic Test
The HBB Gene Sickle Cell Anemia Genetic Test uses Next Generation Sequencing (NGS) to analyze the HBB gene, identifying mutations linked to sickle cell anemia. This test aids in diagnosing this genetic blood disorder.
GFM2 Gene Microcephaly with Simplified Gyral Pattern and Insulin-Dependent Diabetes Genetic Test
Genetic test analyzing the GFM2 gene to identify mutations associated with microcephaly, simplified gyral pattern, and insulin-dependent diabetes. Utilizes Next Generation Sequencing (NGS) technology.
Sufu Gene Medulloblastoma Desmoplastic Familial Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SUFU gene associated with desmoplastic familial medulloblastoma, a type of brain cancer. Recommended for individuals with a family history or specific symptoms. Genetic counseling is advised before testing.
Sequencing Library QCTapeStation
The Sequencing Library QCTapeStation test assesses the quality and quantity of extracted DNA samples, ensuring suitability for genetic sequencing and analysis.
Ganciclovir Resistance Detection Test
This test checks for genetic changes in the cytomegalovirus (CMV) that may make it resistant to the antiviral medication Ganciclovir. It helps guide treatment decisions, especially for patients with weakened immune systems.
Dengue Chikungunya Viruses PCR Qualitative Test
Detects Dengue and Chikungunya viruses using PCR. Essential for diagnosing fever and joint pain caused by these viruses. Confirm with the laboratory before booking.
Ataxia Repeat Expansion Panel Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify repeat expansions in genes associated with various forms of ataxia, a group of neurological disorders affecting coordination. It helps in diagnosing hereditary ataxias.
DRD2 Gene DYT11 DRD2 Related Genetic Test
Genetic test analyzing the DRD2 gene for variations linked to neurological disorders like dystonia. Helps understand genetic risks and inform management.
RNASET2 Gene Leukoencephalopathy Cystic Without Megalencephaly Genetic Test
Genetic test to identify mutations in the RNASET2 gene associated with cystic leukoencephalopathy without megalencephaly, a neurological disorder. Utilizes Next Generation Sequencing (NGS) technology.
NOL3 Gene Myoclonus Familial Cortical Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NOL3 gene associated with myoclonus and other neurological disorders. Useful for individuals with a family history or symptoms.
SMN1 Gene Spinal Muscular Atrophy Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SMN1 gene associated with Spinal Muscular Atrophy (SMA) Type 2. Helps in early diagnosis and management.
DMGDH Gene Dimethylglycine Dehydrogenase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DMGDH gene, associated with Dimethylglycine Dehydrogenase Deficiency, a rare metabolic disorder. Confirm with the laboratory before booking.
GLB1 Gene Mucopolysaccharidosis Type 4B Genetic Test
Genetic test to identify mutations in the GLB1 gene associated with Mucopolysaccharidosis Type 4B (MPS IVB), a rare metabolic disorder. Helps in diagnosis and understanding health risks.
KLK4 Gene Amelogenesis Imperfecta Type 2A1 Genetic Test
Genetic test to identify mutations in the KLK4 gene associated with Amelogenesis Imperfecta Type 2A1, a condition affecting dental enamel formation.
IL21R Gene Immunodeficiency Primary Autosomal Recessive IL21R Related Genetic Test
The IL21R Gene Immunodeficiency Test uses Next Generation Sequencing (NGS) to identify genetic variations in the IL21R gene associated with primary immunodeficiency disorders. This test aids in diagnosing conditions related to the IL21R gene.
DES Gene Cardiomyopathy Dilated Type 1I Genetic Test
Genetic test to identify mutations in the DES gene associated with dilated cardiomyopathy (DCM), a condition affecting heart muscle function. Aids in early detection and management.
CASR Gene Hypocalcemia Autosomal Dominant with Bartter Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CASR gene associated with hypocalcemia and Bartter syndrome. Aids in diagnosis and personalized management.
TRNT1 Gene Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers and Developmental Delay Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TRNT1 gene, associated with sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay.
AP4M1 Gene Microcephaly AP4M1 Related Genetic Test
This genetic test analyzes the AP4M1 gene to identify mutations associated with microcephaly and related developmental conditions. It uses Next-Generation Sequencing (NGS) technology.
CHEK2 Gene Li-Fraumeni Syndrome Type 2 Genetic Test
The CHEK2 Gene Li-Fraumeni Syndrome Type 2 test identifies mutations in the CHEK2 gene associated with an increased risk of certain cancers. This genetic test uses Next Generation Sequencing (NGS) technology.
IGVH Mutation Load
The IGVH Mutation Load test assesses genetic mutations in the IGVH gene, providing crucial information for diagnosing and managing certain blood cancers like lymphomas and leukemias.
E Coli 0157 RNA Detection Qualitative Test
Detects the presence of E. coli O157 RNA in samples like food, water, or stool using Real-Time PCR. Essential for early diagnosis of this potentially harmful bacteria.
Oxford Nanopore 1GB
The Oxford Nanopore 1GB test provides comprehensive DNA sequencing to identify genetic variations and predispositions. This advanced genetic analysis offers valuable insights for personalised healthcare.
H1N1 Swine Flu Qualitative Real Time PCR Test
Detects the H1N1 influenza virus using Real Time PCR technology. Essential for diagnosing swine flu, especially during outbreaks or for individuals with flu-like symptoms.
CentoIEM Genetic Test
The CentoIEM NGS Genetic DNA Test uses Next Generation Sequencing (NGS) to analyze genetic material, helping identify mutations linked to neurological disorders. This test provides valuable insights for diagnosis and treatment planning.
SGCE Gene DYT11 Genetic Test
The SGCE Gene DYT11 NGS Genetic DNA Test identifies mutations in the SGCE gene associated with certain neurological disorders. This test uses Next-Generation Sequencing (NGS) technology for accurate results.
CSF1R Gene Leukoencephalopathy Diffuse Hereditary with Spheroids Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CSF1R gene associated with diffuse hereditary leukoencephalopathy with spheroids, a rare neurological disorder. Confirm with the laboratory before booking.
NHLRC1 Gene Myoclonic Epilepsy of Lafora Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NHLRC1 gene associated with Myoclonic Epilepsy of Lafora. Helps diagnose this rare neurological disorder.
SMN1 Gene Spinal Muscular Atrophy Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SMN1 gene associated with Spinal Muscular Atrophy (SMA) Type 4.
DYM Gene Dyggve-Melchior-Clausen Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DYM gene associated with Dyggve-Melchior-Clausen disease, a metabolic disorder. Helps understand the condition and guide health management.
GUSB Gene Mucopolysaccharidosis Type 7 Genetic Test
Genetic test to identify mutations in the GUSB gene associated with Mucopolysaccharidosis Type 7 (MPS VII), a rare metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
C4orf26 Gene Amelogenesis Imperfecta Type 2A4 Genetic Test
Genetic test to identify mutations in the C4orf26 gene associated with Amelogenesis Imperfecta Type 2A4, a condition affecting tooth enamel development.
IKBKG Gene Immunodeficiency Isolated Genetic Test
Genetic test to identify mutations in the IKBKG gene, which can cause immunodeficiency disorders. Helps diagnose and manage immune system conditions.
BAG3 Gene Cardiomyopathy Dilated Type 1HH Genetic Test
Genetic test to identify mutations in the BAG3 gene associated with dilated cardiomyopathy, aiding in early detection and management of cardiovascular health risks.
KISS1R Gene Hypogonadotropic Hypogonadism Genetic Test
Genetic test to identify mutations in the KISS1R gene associated with hypogonadotropic hypogonadism, a condition affecting reproductive hormone production. Helps understand reproductive health issues and guide treatment.
ANK1 Gene Spherocytosis Type 1 Genetic Test
This genetic test identifies mutations in the ANK1 gene, which can cause hereditary spherocytosis, a condition affecting red blood cells. It helps diagnose the condition, especially in individuals with a family history or related symptoms.
SLC25A19 Gene Microcephaly Amish Type Genetic Test
Genetic test to identify mutations in the SLC25A19 gene associated with microcephaly, particularly relevant for families with a history of this condition.
CDKN2A Gene Melanoma and Neural System Tumor Syndrome Familial Genetic Test
Genetic test to identify mutations in the CDKN2A gene associated with increased risk of melanoma and neural system tumors. Useful for individuals with a family history of these conditions.
IHC ERPRHER2NEU KI67
The IHC ERPRHER2NEU KI67 test helps determine hormone receptor status and cell proliferation in breast cancer tissue, guiding personalized treatment decisions.
Enterococcus Faecalis RNA Detection Qualitative Test
Detects the presence of Enterococcus Faecalis RNA in samples like feces or water using Real Time PCR. Helps identify potential infections.
PacBio Sequel 1GB
The PacBio Sequel 1GB test provides detailed analysis of DNA sequences, offering comprehensive insights into genetic predispositions and hereditary conditions. This advanced genetic sequencing technology helps identify potential health risks.
NGSMito Genome Genetic Test
The NGSMito Genome NGS Genetic DNA Test uses next-generation sequencing to analyze genetic factors related to neurological disorders. This test can provide valuable insights for individuals with a family history or symptoms of such conditions.
ATP1A3 Gene DYT12 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ATP1A3 gene, associated with neurological disorders like DYT12 dystonia. Helps in diagnosis and management.
AARS2 Gene Leukoencephalopathy Progressive with Ovarian Failure Genetic Test
This genetic test identifies mutations in the AARS2 gene, which can be linked to progressive leukoencephalopathy and ovarian failure. It uses advanced Next Generation Sequencing (NGS) technology.
LPIN1 Gene Myoglobinuria Acute Recurrent Genetic Test
Genetic test to identify mutations in the LPIN1 gene associated with acute recurrent myoglobinuria and potential neurological disorders.
SMN1 Gene Spinal Muscular Atrophy Type 3 Genetic Test
This genetic test detects mutations in the SMN1 gene, helping to diagnose Spinal Muscular Atrophy (SMA) Type 3, a condition causing muscle weakness. Early diagnosis is key for management.
CYP2B6 Gene Efavirenz Poor Metabolism of Genetic Test
This genetic test assesses how your body metabolizes the HIV medication Efavirenz, helping to personalize treatment for better effectiveness and fewer side effects.
Arsb Gene Mucopolysaccharidosis Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ARSB gene, associated with Mucopolysaccharidosis type 6 (MPS VI), a rare metabolic disorder. Helps in diagnosis and management.
WDR72 Gene Amelogenesis Imperfecta Type 2A3 Genetic Test
Genetic test analyzing the WDR72 gene to help diagnose Amelogenesis Imperfecta (AI), a condition affecting tooth enamel development. This test uses Next Generation Sequencing (NGS) technology.
CD40LG Gene Immunodeficiency Xlinked with HyperIgM Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CD40LG gene, aiding in the diagnosis of X-linked Hyper-IgM immunodeficiency. Confirm with the laboratory before booking.
EYA4 Gene Cardiomyopathy Dilated Type 1J Genetic Test
This genetic test analyzes the EYA4 gene to identify mutations associated with dilated cardiomyopathy, a type of heart muscle disease. It uses Next-Generation Sequencing (NGS) technology.
LHB Gene Hypogonadotropic Hypogonadism Genetic Test
Genetic test to identify mutations in the LHB gene associated with hypogonadotropic hypogonadism, a condition affecting hormone production and reproductive health.
SPTB Gene Spherocytosis Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SPTB gene associated with hereditary spherocytosis. Helps diagnose the condition and guide management.
MCPH1 Gene Microcephaly Autosomal Recessive Type 1 Genetic Test
Genetic test to identify mutations in the MCPH1 gene associated with microcephaly, a condition affecting head size and brain development. Provides insights for families concerned about genetic predispositions.
MC1R Gene Melanoma Cutaneous Malignant Genetic Test
Genetic test analyzing the MC1R gene to assess individual risk for melanoma, a type of skin cancer. Uses Next Generation Sequencing (NGS) technology.
Pacbio Sequel 30 Gb
The Pacbio Sequel 30 GB test is an advanced genomic sequencing test providing detailed insights into genetic material. It analyzes large amounts of DNA to identify variations relevant to genetic conditions and personalized medicine.
H3N2 Influenza B Qualitative PCR Test
Detects the H3N2 Influenza B virus using a sensitive PCR test. Helps diagnose flu, guide treatment, and monitor outbreaks. Results available same-day (excluding Sundays).
Lebers Hereditary Optic Neuropathy LHON Mitochondrial Mutation Detection Test
This genetic test identifies mitochondrial DNA mutations associated with Lebers Hereditary Optic Neuropathy (LHON), a condition causing vision loss. It helps diagnose the genetic basis of optic neuropathy, especially in individuals with relevant family history or unexplained visual symptoms.
NGSMito Comprehensive Genetic Test
The NGSMito Comprehensive NGS Genetic DNA Test uses Next-Generation Sequencing (NGS) to identify genetic predispositions to neurological disorders. This test provides insights into potential risks, aiding in early intervention and management.
SLC2A1 Gene DYT18 Genetic Test
The SLC2A1 Gene DYT18 NGS Genetic DNA Test identifies mutations in the SLC2A1 gene associated with neurological disorders like DYT18 dystonia. This test uses Next Generation Sequencing (NGS) technology for accurate genetic analysis.
GBA Gene Lewy Body Dementia Susceptibility to Genetic Test
Assess your genetic risk for Lewy body dementia with the GBA Gene Susceptibility Test using Next-Generation Sequencing (NGS). Understand your predisposition to this neurological condition.
ITGA7 Gene Myopathy Due To Integrin 7A Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ITGA7 gene, associated with myopathy due to Integrin 7A deficiency. Helps diagnose the genetic cause of muscle weakness and related symptoms.
DNAJB2 Gene Spinal Muscular Atrophy Type 5 Genetic Test
Genetic test to detect mutations in the DNAJB2 gene associated with Spinal Muscular Atrophy Type 5 (SMA5), a neurological disorder affecting muscle strength. This test uses Next Generation Sequencing (NGS) technology.
TMPRSS15 Gene Enterokinase Deficiency Genetic Test
Genetic test to identify mutations in the TMPRSS15 gene associated with Enterokinase deficiency, a condition linked to metabolic disorders. Utilizes Next Generation Sequencing (NGS) technology.
PHKA1 Gene Muscle Glycogenosis Genetic Test
The PHKA1 Gene Muscle Glycogenosis NGS Genetic DNA Test helps identify genetic mutations linked to muscle glycogen storage disorders using advanced Next Generation Sequencing (NGS) technology. This test is important for diagnosing metabolic disorders affecting muscle function.
SLC24A4 Gene Amelogenesis Imperfecta Type 2A5 Genetic Test
Genetic test to identify mutations in the SLC24A4 gene associated with Amelogenesis Imperfecta Type 2A5, a condition affecting tooth enamel development.
ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ZBTB24 gene, associated with immunodeficiency and facial anomalies. Helps in diagnosing specific genetic syndromes.
MYPN Gene Cardiomyopathy Dilated Type 1KK Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MYPN gene associated with dilated cardiomyopathy. Helps assess risk and guide management.
CASR Gene Hypocalciuric Hypercalcemia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CASR gene, aiding in the diagnosis of Hypocalciuric Hypercalcemia Type 1, a condition affecting calcium levels.
SPTA1 Gene Spherocytosis Type 3 Genetic Test
This genetic test identifies mutations in the SPTA1 gene associated with hereditary spherocytosis, a condition affecting red blood cells. It uses Next Generation Sequencing (NGS) technology to analyze DNA for specific genetic changes.
PHC1 Gene Microcephaly Autosomal Recessive Type 11 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PHC1 gene associated with microcephaly. Helps families understand genetic risks for this condition.
MITF Gene Melanoma Cutaneous Malignant Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MITF gene for alterations associated with melanoma risk. Helps identify genetic predispositions for early detection and personalized management.
Filaria Bacterial Load Test
The Filaria Bacterial Load Test uses Real Time PCR to measure the bacterial load associated with filarial infections in a blood sample. This test helps in diagnosing and managing filarial infections.
Calr Mutation Detection Test
The Calr Mutation Detection Test identifies mutations in the CALR gene, aiding in the diagnosis and management of certain blood cancers, particularly myeloproliferative neoplasms (MPNs).
Hains Mycobacterium Tuberculosis First Line Drug Resistance Profile Test
Detects resistance to first-line anti-TB drugs in Mycobacterium tuberculosis. Helps guide effective treatment planning for tuberculosis.
NGSNeuro Genetic Test
The NGSNeuro Genetic Test uses Next Generation Sequencing (NGS) to analyze DNA for genetic variations associated with neurological disorders. This test can help identify predispositions and inform management strategies.
PRKRA Gene DYT16 Genetic Test
The PRKRA Gene DYT16 NGS Genetic DNA Test identifies genetic mutations linked to DYT16 dystonia, a movement disorder. This test uses Next-Generation Sequencing (NGS) technology for accurate analysis. Recommended for individuals with symptoms or a family history of neurological disorders.
MYOT Gene Limbgirdle Muscular Dystrophy Autosomal Dominant Type 1A Genetic Test
Genetic test to identify mutations in the MYOT gene associated with Limb-girdle Muscular Dystrophy, Autosomal Dominant Type 1A (LGMD1A).
AMPD1 Gene Myopathy Due To Myoadenylate Deaminase Deficiency Genetic Test
Genetic test to identify mutations in the AMPD1 gene associated with myoadenylate deaminase deficiency, a rare condition affecting muscle metabolism.
ASAH1 Gene Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Genetic Test
Genetic test to identify mutations in the ASAH1 gene associated with spinal muscular atrophy and progressive myoclonic epilepsy.
SLC16A1 Gene Erythrocyte Lactate Transporter Defect Genetic Test
This genetic test identifies mutations in the SLC16A1 gene, which can be linked to metabolic disorders. It helps in diagnosing conditions related to lactate transport.
HYAL1 Gene Mucopolysaccharidosis Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the HYAL1 gene for Mucopolysaccharidosis Type 9 (MPS IX), a rare metabolic disorder. Helps in early diagnosis and management.
FAM83H Gene Amelogenesis Imperfecta Type 3 Genetic Test
Genetic test for Amelogenesis Imperfecta Type 3, a condition affecting tooth enamel development. Uses NGS technology to identify mutations in the FAM83H gene.
DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DNMT3B gene for mutations associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 (ICF1).
SGCD Gene Cardiomyopathy Dilated Type 1L Genetic Test
Genetic test to identify mutations in the SGCD gene associated with dilated cardiomyopathy (DCM), a condition affecting heart muscle function. Helps understand cardiovascular risks and guide treatment.
NSMF Gene Hypogonadotropic Hypogonadism Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the NSMF gene, aiding in the diagnosis of hypogonadotropic hypogonadism, a condition affecting hormone production and potentially fertility.
EPB42 Gene Spherocytosis Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the EPB42 gene for mutations associated with hereditary spherocytosis, a condition affecting red blood cells. Recommended for individuals with a family history or symptoms of hemolytic anemia.
CDK6 Gene Microcephaly Autosomal Recessive Type 12 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CDK6 gene associated with Microcephaly, Autosomal Recessive Type 12. Useful for diagnosing microcephaly and related developmental issues.
CDKN2A Gene Melanoma Cutaneous Malignant Familial Genetic Test
Genetic test to assess the risk of familial melanoma by analyzing the CDKN2A gene. Helps identify individuals with an increased predisposition to this type of skin cancer.
Factor V Leiden Detection RNA Detection Qualitative Test
Identifies the Factor V Leiden genetic mutation, which increases the risk of blood clots (thrombosis). This test uses Real Time PCR for accurate detection.
Hains Mycobacterium Tuberculosis First Second Line Drug Resistance Profile Test
This test identifies resistance to first and second-line anti-TB drugs in Mycobacterium tuberculosis, guiding effective treatment for tuberculosis patients in Kenya.
Leigh Syndrome Mitochondrial Mutation Detection Test
This test helps diagnose Leigh syndrome, a serious neurological disorder, by identifying specific mitochondrial mutations. Early diagnosis can guide management and treatment.
Dementia Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify predispositions to dementia and related neurological disorders. Helps in early detection and informed decision-making.
CACNA1B Gene DYT23 Genetic Test
The CACNA1B Gene DYT23 NGS Genetic DNA Test analyzes the CACNA1B gene to identify mutations linked to neurological disorders, aiding in diagnosis and management.
LMNA Gene Limbgirdle Muscular Dystrophy Autosomal Dominant Type 1B Genetic Test
Genetic test to identify mutations in the LMNA gene associated with Limb-girdle Muscular Dystrophy Type 1B (LGMD1B), a condition causing progressive muscle weakness. Early diagnosis aids management.
MicU1 Gene Myopathy with Extrapyramidal Signs Genetic Test
This genetic test identifies mutations in the MicU1 gene, which can be associated with myopathy (muscle weakness) and extrapyramidal signs (movement disorders). It uses Next-Generation Sequencing (NGS) technology to analyze DNA.
ATP7A Gene Spinal Muscular Atrophy Distal X-Linked Genetic Test
Genetic test to identify mutations in the ATP7A gene, associated with spinal muscular atrophy and other neurological disorders. Uses Next Generation Sequencing (NGS) technology.
F2 Gene Factor II Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the F2 gene associated with Factor II deficiency, a blood clotting disorder. Helps identify genetic risks.
NAGS Gene N-Acetylglutamate Synthase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the NAGS gene, aiding in the diagnosis of N-acetylglutamate synthase deficiency, a metabolic disorder. Confirm with the laboratory before booking.
DLX3 Gene Amelogenesis Imperfecta Type 4 Genetic Test
Genetic test to identify mutations in the DLX3 gene associated with Amelogenesis Imperfecta Type 4, a condition affecting tooth enamel development.
PECAM1 Gene Immunological Disorder PECAM1 Related Genetic Test
Genetic test to identify mutations in the PECAM1 gene associated with immunological disorders. Helps diagnose conditions affecting the immune system and skin.
CSRP3 Gene Cardiomyopathy Dilated Type 1M Genetic Test
Genetic test to identify mutations in the CSRP3 gene associated with dilated cardiomyopathy (DCM), a condition affecting heart muscle function. This test uses Next-Generation Sequencing (NGS) technology.
TAC3 Gene Hypogonadotropic Hypogonadism Type 10 With or Without Anosmia Genetic Test
This genetic test analyzes the TAC3 gene to help diagnose Hypogonadotropic Hypogonadism Type 10, a condition affecting hormone production and potentially linked to anosmia (loss of smell).
HBA1 Gene Thalassemia Alpha Genetic Test
The HBA1 Gene Thalassemia Alpha NGS Genetic DNA Test identifies genetic mutations linked to alpha thalassemia, a blood disorder affecting hemoglobin. This test uses Next Generation Sequencing (NGS) for accurate results. Recommended for individuals with a family history or symptoms.
CENPE Gene Microcephaly Autosomal Recessive Type 13 Genetic Test
The CENPE Gene Microcephaly Autosomal Recessive Type 13 NGS Genetic DNA Test identifies mutations in the CENPE gene associated with microcephaly, aiding in diagnosis and family planning.
CDK4 Gene Melanoma Cutaneous Malignant Familial CDK4 Related Genetic Test
Genetic test to identify mutations in the CDK4 gene associated with familial melanoma risk. Helps assess predisposition for proactive monitoring.
OncoPro Colorectal Cancer Screen Circulating Tumor Cells Test
The OncoPro Colorectal Cancer Screen Circulating Tumor Cells Test detects circulating tumor cells (CTCs) in the blood, aiding in the early detection and monitoring of colorectal cancer.
Hains Mycobacterium Tuberculosis Second Line Drug Resistance Profile Test
Detects resistance to second-line drugs in Mycobacterium tuberculosis, crucial for treating multidrug-resistant TB (MDR-TB). Helps guide effective therapy.
Dystonia Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations associated with dystonia, a neurological disorder causing involuntary muscle contractions. Helps understand the genetic basis for personalized care and counseling.
HPCA Gene DYT2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the HPCA gene associated with certain neurological disorders. Helps identify genetic predispositions for early intervention.
CAV3 Gene Limbgirdle Muscular Dystrophy Autosomal Dominant Type 1C Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CAV3 gene associated with Limb-Girdle Muscular Dystrophy, Autosomal Dominant Type 1C. Aids in diagnosis and management.
ACTA1 Gene Myopathy With Fiber-Type Disproportion Genetic Test
Genetic test to identify mutations in the ACTA1 gene, associated with specific muscle disorders like myopathy. Helps diagnose conditions causing muscle weakness.
BICD2 Gene Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2 Genetic Test
Genetic test for mutations in the BICD2 gene associated with a specific type of spinal muscular atrophy (SMA).
GLA Gene Fabry Disease Genetic Test
The GLA Gene Fabry Disease NGS Genetic DNA Test identifies mutations in the GLA gene associated with Fabry disease, a rare metabolic disorder. This test aids in early diagnosis and management.
NEU1 Gene Neuraminidase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NEU1 gene, associated with neuraminidase deficiency and related metabolic disorders. Helps in early diagnosis and management.
AMTN Gene Amelotin Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AMTN gene, which can be linked to dental enamel disorders and other related conditions. Confirm with the laboratory before booking.
Foxp3 Gene Immunodysregulation Polyendocrinopathy and Enteropathy Xlinked Genetic Test
The Foxp3 Gene Immunodysregulation Polyendocrinopathy and Enteropathy (IPEX) X-linked NGS Genetic DNA Test analyzes the FOXP3 gene to identify mutations linked to immune system disorders. This test helps understand genetic predispositions to conditions like autoimmune diseases and enteropathy.
PRDM16 Gene Cardiomyopathy Dilated Type 1LL Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PRDM16 gene for mutations associated with dilated cardiomyopathy. Helps assess risk and guide management.
TACR3 Gene Hypogonadotropic Hypogonadism Type 11 With or Without Anosmia Genetic Test
Genetic test to identify mutations in the TACR3 gene, which can cause hypogonadotropic hypogonadism, potentially with anosmia (loss of smell). Helps understand the genetic basis for hormonal imbalances.
HBA2 Gene Thalassemia Alpha Genetic Test
The HBA2 Gene Thalassemia Alpha NGS Genetic DNA Test identifies mutations in the HBA2 gene associated with alpha thalassemia, a blood disorder affecting hemoglobin production. This test uses advanced Next Generation Sequencing (NGS) technology for accurate diagnosis.
KNL1 Gene Microcephaly Autosomal Recessive Type 4 Genetic Test
Genetic test to identify mutations in the KNL1 gene associated with autosomal recessive microcephaly type 4. Utilizes Next Generation Sequencing (NGS) technology.
POT1 Gene Melanoma Cutaneous Malignant Familial Type 10 Susceptibility to Genetic Test
Genetic test using Next Generation Sequencing (NGS) to assess predisposition to familial melanoma by analyzing the POT1 gene. Helps identify individuals at higher risk.
Filaria RNA Detection Qualitative Test
Detects active filarial infections caused by parasitic worms using Real Time PCR on blood or biopsy samples. Essential for early diagnosis and management in endemic areas.
Pik3ca Mutation Analysis
The PIK3CA Mutation Analysis is a genetic test to identify mutations in the PIK3CA gene, often linked to certain cancers like breast cancer. This information can help guide personalised treatment decisions.
Canavan Disease Test
The Canavan Disease Test helps detect a rare genetic disorder affecting brain development. It measures N-acetylaspartate (NAA) levels in urine to identify individuals at risk.
Dengue Virus PCR Qualitative Test
Detects the presence of the dengue virus using a highly accurate PCR test. Essential for individuals experiencing dengue-like symptoms.
Epilepsy Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify genetic factors associated with epilepsy, aiding in diagnosis and personalized treatment.
ANO3 Gene DYT24 Genetic Test
The ANO3 Gene DYT24 NGS Genetic DNA Test identifies mutations in the ANO3 gene linked to certain neurological disorders, like dystonia. This test uses advanced Next-Generation Sequencing (NGS) technology to analyze your genetic makeup, aiding in diagnosis and personalized treatment planning.
DNAJB6 Gene Limbgirdle Muscular Dystrophy Autosomal Dominant Type 1E Genetic Test
Genetic test to identify mutations in the DNAJB6 gene associated with Limb-Girdle Muscular Dystrophy Type 1E. Helps in diagnosis and understanding genetic risk.
Selenon Gene Myopathy with Fiber-Type Disproportion Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SELENON gene, associated with specific neurological disorders like myopathy. Helps in diagnosing conditions causing muscle weakness.
Dync1h1 Gene Spinal Muscular Atrophy Lower Extremity-Predominant Type 1 Autosomal Dominant Genetic Test
Genetic test for mutations in the DYNC1H1 gene associated with Spinal Muscular Atrophy (SMA), particularly the lower extremity-predominant type. Uses Next Generation Sequencing (NGS) for comprehensive analysis.
F5 Gene Factor V Deficiency Genetic Test
The F5 Gene Factor V Deficiency NGS Genetic DNA Test identifies mutations in the F5 gene linked to Factor V deficiency, a condition affecting blood clotting. This test uses advanced NGS technology to assess genetic risk.
SMPD1 Gene Niemann-Pick Disease Type AB Genetic Test
This genetic test identifies mutations in the SMPD1 gene associated with Niemann-Pick disease types A and B, using Next Generation Sequencing (NGS) technology. It aids in early diagnosis and management of this rare metabolic disorder.
OSMR Gene Amyloidosis Primary Localized Cutaneous Type 1 Genetic Test
Genetic test to identify mutations in the OSMR gene associated with Primary Localized Cutaneous Amyloidosis Type 1, a skin condition. Helps guide management and treatment.
PICALM Gene Immunological Disorder PICALM Related Genetic Test
The PICALM Gene Immunological Disorder test identifies mutations in the PICALM gene linked to immunological conditions. This genetic DNA test uses Next-Generation Sequencing (NGS) to provide insights for individuals with a family history of related disorders.
TCAP Gene Cardiomyopathy Dilated Type 1N Genetic Test
Genetic test to identify mutations in the TCAP gene associated with dilated cardiomyopathy, aiding in diagnosis and risk assessment for individuals with a family history or symptoms of heart disease.
GNRH1 Gene Hypogonadotropic Hypogonadism Type 12 with or without Anosmia Genetic Test
Genetic test for mutations in the GNRH1 gene associated with hypogonadotropic hypogonadism, often linked to delayed puberty or anosmia. Utilizes Next Generation Sequencing (NGS) for comprehensive analysis.
HBD Gene Thalassemia Delta Genetic Test
The HBD Gene Thalassemia Delta NGS Genetic DNA Test identifies genetic mutations in the HBD gene associated with delta thalassemia, aiding in early detection and management of this blood disorder. Utilizes advanced NGS technology.
ASPM Gene Microcephaly Autosomal Recessive Type 5 Genetic Test
Genetic test to identify mutations in the ASPM gene associated with autosomal recessive microcephaly, a condition affecting brain development. Helps in diagnosis and family planning.
PDGFB Gene Meningioma Familial PDGFB Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PDGFB gene for mutations associated with familial meningiomas. Helps assess genetic risk for individuals with a family history of this brain tumor.
Oncopro Pan Cancer Monitor Test
The Oncopro Pan Cancer Monitor Test helps track cancer progression and treatment effectiveness by analysing circulating tumor DNA (ctDNA) in the blood. This test provides valuable information for personalised cancer management.
Intellectual Disability Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify potential genetic causes of intellectual disabilities. Helps understand neurological conditions.
GNAL Gene DYT25 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GNAL gene, associated with certain neurological disorders like dystonia.
SGCD Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2F Genetic Test
Genetic test to identify mutations in the SGCD gene associated with Limb-Girdle Muscular Dystrophy (LGMD) Type 2F, a rare condition causing progressive muscle weakness. Helps in diagnosis and management.
MEGF10 Gene Myopathy Areflexia Respiratory Distress and Dysphagia Early-Onset Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MEGF10 gene, associated with early-onset myopathy, areflexia, respiratory distress, and dysphagia.
ATXN1 Gene Spinocerebellar Ataxia Type 1 Autosomal Dominant Genetic Test
Genetic test to detect mutations in the ATXN1 gene associated with Spinocerebellar Ataxia Type 1 (SCA1), a hereditary neurological disorder affecting coordination and balance.
F13B Gene Factor XIIIB Deficiency Genetic Test
Genetic test to identify mutations in the F13B gene associated with Factor XIIIB deficiency, a rare bleeding disorder. Uses Next Generation Sequencing (NGS) technology.
NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NPC2 gene associated with Niemann-Pick disease type C2, a rare metabolic disorder. Recommended for individuals with relevant symptoms or family history.
IL31RA Gene Amyloidosis Primary Localized Cutaneous Type 2 Genetic Test
Genetic test to identify mutations in the IL31RA gene associated with primary localized cutaneous amyloidosis type 2. Helps in diagnosing this specific type of amyloidosis.
ABCB1 Gene Inflammatory Bowel Disease Type 13 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ABCB1 gene for variations associated with an increased risk of inflammatory bowel disease (IBD).
PLN Gene Cardiomyopathy Dilated Type 1P Genetic Test
Genetic test for mutations in the PLN gene associated with dilated cardiomyopathy (DCM). Uses Next Generation Sequencing (NGS) to assess risk. Confirm price and turnaround time before booking.
HS6ST1 Gene Hypogonadotropic Hypogonadism Type 15 with or without Anosmia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HS6ST1 gene associated with hypogonadotropic hypogonadism, potentially causing delayed puberty or infertility.
SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome Genetic Test
Genetic test to identify mutations in the SLC19A2 gene, associated with thiamine-responsive megaloblastic anemia syndrome. Helps diagnose the genetic cause of certain types of anemia.
CENPJ Gene Microcephaly Autosomal Recessive Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CENPJ gene, associated with autosomal recessive microcephaly. Helps diagnose the genetic cause of microcephaly and guide management.
Sufu Gene Meningioma Familial Susceptibility to Genetic Test
This genetic test identifies mutations in the SUFU gene associated with an increased risk of developing meningiomas, a type of brain tumor. It helps assess familial susceptibility.
Irnotecan Toxicity Assessment UGT1A1 Genotyping Gilbert Syndrome
This genetic test assesses your UGT1A1 gene to understand how your body processes Irnotecan chemotherapy, helping to predict potential toxicity and guide personalized treatment.
GAPDH Gene Load Test
The GAPDH Gene Load Test measures viral load using Real Time PCR technology to help manage viral infections. Confirm with the laboratory before booking.
Exome Max Test
The Exome Max Test analyzes the protein-coding regions of your genes (the exome) to identify genetic variations potentially linked to health conditions. This comprehensive test can help diagnose unexplained disorders and inform treatment.
OncoPro NCCN Lung Cancer Panel with PD-L1 Test
The OncoPro NCCN Lung Cancer Panel with PD-L1 Test identifies genetic mutations and biomarkers in lung cancer, guiding personalized treatment decisions. This comprehensive test analyzes key genes like EGFR, ALK, and PD-L1.
Cancer 50 Gene Panel NGS Test
The Cancer 50 Gene Panel NGS Test analyzes 50 key genes linked to various cancers using Next Generation Sequencing (NGS). This test helps identify genetic mutations that can inform treatment decisions and understand cancer risk. Confirm with the laboratory before booking.
Parkinson Disease Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to screen for mutations associated with Parkinson's disease. Provides insights into genetic predisposition for early intervention and personalized care. Confirm with the laboratory before booking.
KCTD17 Gene DYT26 Myoclonic Genetic Test
This genetic test analyzes the KCTD17 gene to identify mutations associated with DYT26 myoclonic disorders, aiding in the diagnosis and management of specific neurological conditions.
POMK Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 12C Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the POMK gene, associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 12C. Aids in diagnosing and managing this specific type of muscular dystrophy.
COL6A6 Gene Myopathy COL6A6 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the COL6A6 gene, associated with certain types of myopathy and neurological disorders. Helps diagnose conditions causing muscle weakness.
ATP2B3 Gene Spinocerebellar Ataxia Type 1 X-Linked Genetic Test
Genetic test to identify mutations in the ATP2B3 gene associated with Spinocerebellar Ataxia Type 1, a neurological disorder affecting coordination and balance.
FANCA Gene Fanconi Anemia Type A Genetic Test
Genetic test to identify mutations in the FANCA gene associated with Fanconi Anemia Type A, a condition affecting blood cell production. Helps in early detection and management.
ALPL Gene Odontohypophosphatasia Genetic Test
The ALPL Gene Odontohypophosphatasia Genetic Test analyzes the ALPL gene to identify mutations linked to odontohypophosphatasia, a rare metabolic disorder affecting bone and dental health. This test uses Next Generation Sequencing (NGS) for precise detection of genetic variations.
MYBPC1 Gene Arthrogryposis Distal Type 1B Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MYBPC1 gene associated with Arthrogryposis Distal Type 1B. Helps in diagnosis and understanding the genetic basis of the condition.
IKBKG Gene Incontinentia Pigmenti Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the IKBKG gene associated with Incontinentia Pigmenti Type 2, a rare genetic disorder affecting skin, teeth, hair, and the central nervous system.
ABCC9 Gene Cardiomyopathy Dilated Type 1O Genetic Test
Genetic test to identify mutations in the ABCC9 gene associated with dilated cardiomyopathy (DCM), a condition affecting heart muscle function. Helps assess genetic risk for DCM.
GNRHR Gene Hypogonadotropic Hypogonadism Type 7 with or without Anosmia Genetic Test
Genetic test to identify mutations in the GNRHR gene, which can cause hypogonadotropic hypogonadism (delayed puberty, infertility) sometimes associated with anosmia (loss of smell).
MPL Gene Thrombocytopenia Congenital Amegakaryocytic Genetic Test
This genetic test identifies mutations in the MPL gene associated with Congenital Amegakaryocytic Thrombocytopenia (CAMT), a condition causing low platelet counts. It uses Next-Generation Sequencing (NGS) technology to help diagnose and manage this inherited blood disorder.
STIL Gene Microcephaly Autosomal Recessive Type 7 Genetic Test
Genetic test to identify mutations in the STIL gene associated with microcephaly and developmental disorders. Utilizes Next-Generation Sequencing (NGS) technology.
SMARCE1 Gene Meningioma Familial Susceptibility to Genetic Test
Genetic test to assess the risk of developing meningioma, a type of brain tumor, by identifying mutations in the SMARCE1 gene. Recommended for individuals with a family history of meningioma.
Jak 2 Mutation Detection Panel Exons 12
Genetic test to identify mutations in the Jak2 gene, associated with blood disorders like polycythemia vera and essential thrombocythemia. Helps in early diagnosis and management.
Hemophilia A Common Mutation Screening Factor VIII Intron 22 and Intron 1 Inversion Analysis
This genetic test screens for common mutations associated with Hemophilia A, focusing on Factor VIII Intron 22 and Intron 1 inversions. It helps in diagnosing and managing this bleeding disorder.
OncoPro PDL1 Circulating Tumor Cells Test
The OncoPro PDL1 Circulating Tumor Cells Test detects circulating tumor cells (CTCs) in the blood, aiding in cancer diagnosis, treatment monitoring, and personalized therapy planning.
Cancer Targeted Gene Panel Lung with PDL1 Dako Test
A genetic test identifying specific mutations and PDL-1 expression in lung cancer tissue to guide personalized treatment decisions.
Pan Fungal Detection and Identification PCR Test
Detects and identifies a wide range of fungal infections using advanced PCR technology for rapid and accurate diagnosis.
Thalassemia Alpha Mutation Analysis Test
Identifies mutations in the alpha globin genes associated with thalassemia, a genetic blood disorder. Helps in diagnosis, treatment planning, and genetic counseling.
Spastic Paraplegia Panel Genetic Test
The Spastic Paraplegia Panel NGS Genetic DNA Test uses advanced sequencing technology to identify genetic mutations associated with spastic paraplegia, a neurological disorder causing progressive leg weakness and stiffness. This test helps in diagnosis and management.
Taf1 Gene Dyt3 Genetic Test
The Taf1 Gene DYT3 NGS Genetic DNA Test identifies mutations in the TAF1 gene linked to neurological disorders like DYT3 dystonia, using advanced next-generation sequencing technology.
CAPN3 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2A Genetic Test
This genetic test identifies mutations in the CAPN3 gene associated with Limb-Girdle Muscular Dystrophy Type 2A (LGMD2A), an inherited muscle disorder. It uses Next Generation Sequencing (NGS) technology.
CRYAB Gene Myopathy Desmin Related Associated With Mutation In The CRYAB Gene Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CRYAB gene associated with desmin-related myopathy and other neurological disorders. Confirm with the laboratory before booking.
ATXN10 Gene Spinocerebellar Ataxia Type 10 Autosomal Dominant Genetic Test
This genetic test identifies mutations in the ATXN10 gene associated with Spinocerebellar Ataxia Type 10 (SCA10), a hereditary neurological disorder affecting coordination and balance. It uses Next-Generation Sequencing (NGS) technology.
FANCB Gene Fanconi Anemia Type B Genetic Test
Genetic test to identify mutations in the FANCB gene associated with Fanconi anemia type B, using Next Generation Sequencing (NGS) technology.
OTC Gene Ornithine Transcarbamoylase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the OTC gene, aiding in the diagnosis of Ornithine Transcarbamoylase Deficiency, a metabolic disorder. Confirm price and availability before booking.
TPM2 Gene Arthrogryposis Distal Type 1A Genetic Test
This genetic test identifies mutations in the TPM2 gene associated with Arthrogryposis Distal Type 1A, a condition causing joint deformities and muscle weakness. Confirm with the laboratory before booking.
ADAM17 Gene Inflammatory Skin and Bowel Disease Neonatal Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ADAM17 gene for predispositions to inflammatory skin and bowel diseases in neonates. Aids in early diagnosis and management.
ACTC1 Gene Cardiomyopathy Dilated Type 1R Genetic Test
Genetic test to identify mutations in the ACTC1 gene associated with dilated cardiomyopathy (DCM), a condition affecting heart muscle function. Helps assess risk and guide management.
PROKR2 Gene Hypogonadotropic Hypogonadism Type 3 with or without Anosmia Genetic Test
Genetic test to identify mutations in the PROKR2 gene associated with Hypogonadotropic Hypogonadism Type 3, potentially with anosmia. Helps understand genetic causes of reproductive health issues.
ANKRD26 Gene Thrombocytopenia Type 2 Genetic Test
This genetic test identifies mutations in the ANKRD26 gene associated with Thrombocytopenia Type 2, a condition causing low platelet counts. It helps understand the genetic basis of the condition and informs treatment decisions.
Cep135 Gene Microcephaly Autosomal Recessive Type 8 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CEP135 gene associated with Microcephaly Autosomal Recessive Type 8.
MN1 Gene Meningioma MN1 Deficiency Related Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify mutations in the MN1 gene, which may be associated with an increased risk of developing meningioma, a type of brain tumor. Results can help guide personalized care.
Jak 2 Mutation Detection Panel Exons 12-15
This genetic test identifies specific mutations in the JAK2 gene (exons 12-15), often linked to blood disorders like Polycythemia Vera and Essential Thrombocythemia. It helps in diagnosis and treatment planning.
Haptoglobin Genotyping Test
The Haptoglobin Genotyping Test identifies genetic variations related to hemoglobin metabolism, aiding in the diagnosis of certain genetic disorders. Confirm with the laboratory before booking.
Leptospira Detection PCR Test
Detects Leptospira bacteria using PCR to diagnose leptospirosis, a serious infection. Essential for individuals with symptoms like fever, headache, and muscle pain after potential exposure.
Pan Fungal Detection PCR Test
Detects fungal DNA using PCR technology for accurate diagnosis of fungal infections. Suitable for patients with symptoms or risk factors for fungal disease.
Thalassemia Alpha Trio Prenatal Mutation Detection Test
The Thalassemia Alpha Trio Prenatal Mutation Detection Test helps expecting parents identify potential genetic disorders in their unborn child. This test uses advanced methods to detect mutations associated with alpha thalassemia.
DHH Gene 46XY Gonadal Dysgenesis Partial with Minifascicular Neuropathy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the DHH gene, associated with 46XY gonadal dysgenesis and minifascicular neuropathy. Helps diagnose and manage these conditions.
COL6A3 Gene DYT27 Genetic Test
The COL6A3 Gene DYT27 NGS Genetic DNA Test identifies mutations linked to neurological disorders, particularly DYT27 dystonia. Utilizes advanced NGS technology for precise genetic insights.
DYSF Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2B Genetic Test
Genetic test to identify mutations in the DYSF gene associated with Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B), a condition causing progressive muscle weakness.
MYH7 Gene Myopathy Distal Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MYH7 gene associated with distal myopathy type 1. Helps diagnose neurological disorders and understand genetic predispositions.
ANO10 Gene Spinocerebellar Ataxia Type 10 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the ANO10 gene associated with Spinocerebellar Ataxia Type 10, a neurological disorder affecting coordination and balance. Confirm with the laboratory before booking.
FANCC Gene Fanconi Anemia Type C Genetic Test
This genetic test identifies mutations in the FANCC gene associated with Fanconi anemia type C, a rare disorder affecting DNA repair. It uses Next Generation Sequencing (NGS) technology.
Ptf1a Gene Pancreatic Agenesis Type 2 Genetic Test
Genetic test for alterations in the Ptf1a gene associated with pancreatic agenesis. Helps assess risk for related metabolic disorders.
MYH3 Gene Arthrogryposis Distal Type 2A Genetic Test
Genetic test analyzing the MYH3 gene to identify mutations associated with Arthrogryposis Distal Type 2A. Helps in diagnosis and understanding hereditary risks.
IL12A Gene Interleukin 12A Deficiency Genetic Test
Genetic test to identify mutations in the IL12A gene, which can cause immunological and dermatological disorders. Utilizes Next-Generation Sequencing (NGS) technology.
MYH7 Gene Cardiomyopathy Dilated Type 1S Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MYH7 gene associated with Dilated Cardiomyopathy Type 1S, a serious heart condition. Helps assess risk and guide management.
PTH Gene Hypoparathyroidism Genetic Test
The PTH Gene Hypoparathyroidism NGS Genetic DNA Test identifies genetic mutations linked to hypoparathyroidism, a condition affecting calcium regulation. This test aids in diagnosis and management.
Mastl Gene Thrombocytopenia Type 2 Genetic Test
This genetic test identifies mutations in the MASTL gene associated with thrombocytopenia (low platelet count). It is useful for individuals with a family history of related blood disorders.
CEP152 Gene Microcephaly Autosomal Recessive Type 9 Genetic Test
The CEP152 Gene Microcephaly Autosomal Recessive Type 9 Genetic Test identifies mutations in the CEP152 gene linked to microcephaly. This test uses Next Generation Sequencing (NGS) technology to analyze DNA for specific genetic variants. It is valuable for individuals with a history of microcephaly or related developmental disorders.
MLH1 Gene Mismatch Repair Cancer Syndrome Genetic Test
Genetic test to identify mutations in the MLH1 gene, associated with an increased risk of certain cancers like colorectal cancer. Helps in understanding genetic predispositions.
JAK2 Gene V617F Quantitative
The JAK2 Gene V617F Quantitative test detects specific genetic mutations linked to blood disorders like polycythemia vera and essential thrombocythemia, aiding diagnosis and treatment.
HCV Hepatitis C Virus Viral Load Quantitative Test
Measures the amount of Hepatitis C virus (HCV) in your blood. This test helps diagnose, monitor treatment effectiveness, and guide management of Hepatitis C infection.
OncoPro Prostate Cancer Screen Test
The OncoPro Prostate Cancer Screen Test is a molecular diagnostic tool for early detection of prostate cancer risk in men. It analyzes specific biomarkers in the blood.
Cancer Targeted Gene Panel Colon Colorectal Test
Detects genetic mutations linked to colorectal cancer. This test helps guide personalized treatment plans for patients, especially those with a family history or symptoms. Confirm with the laboratory before booking.
Thalassemia Beta Mutation Analysis Test
Identifies genetic mutations linked to beta-thalassemia, a hereditary blood disorder. Aids in early diagnosis and management.
AAAS Gene Achalasia Addisonianism Alacrimia Syndrome Genetic Test
The AAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic DNA Test helps diagnose rare neurological disorders linked to the AAAS gene. This test uses advanced Next-Generation Sequencing (NGS) technology to identify genetic variations associated with achalasia, addisonianism, and alacrimia.
TUBB4A Gene DYT4 Genetic Test
Genetic test to identify mutations in the TUBB4A gene, associated with certain neurological disorders like dystonia. Uses Next Generation Sequencing (NGS) technology.
SGCG Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2C Genetic Test
This genetic test identifies mutations in the SGCG gene associated with Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C), an inherited condition causing progressive muscle weakness. It uses Next-Generation Sequencing (NGS) technology.
FLNC Gene Myopathy Distal Type 4 Genetic Test
This genetic test identifies mutations in the FLNC gene, associated with specific types of myopathy (muscle weakness). It uses next-generation sequencing (NGS) technology to analyze genetic variations.
TTBK2 Gene Spinocerebellar Ataxia Type 11 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the TTBK2 gene associated with Spinocerebellar Ataxia Type 11, a hereditary neurological disorder.
FANCD2 Gene Fanconi Anemia Type D2 Genetic Test
The FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic DNA Test identifies genetic variations linked to Fanconi anemia type D2, a rare inherited disorder affecting DNA repair. This test is important for individuals with a family history of the condition.
UMPS Gene Orotic Aciduria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the UMPS gene associated with Orotic aciduria, a rare metabolic disorder. Helps in early diagnosis and management.
MYH3 Gene Arthrogryposis Distal Type 2B Genetic Test
This genetic test identifies mutations in the MYH3 gene associated with Arthrogryposis Distal Type 2B, a condition causing joint contractures and muscle weakness. Confirm with the laboratory before booking.
IL2RA Gene Interleukin 2 Receptor Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the IL2RA gene, which can cause severe immunological deficiencies. Helps diagnose genetic disorders related to the immune system.
PSEN1 Gene Cardiomyopathy Dilated Type 1U Genetic Test
Genetic test to identify mutations in the PSEN1 gene associated with dilated cardiomyopathy (DCM). Helps assess genetic risk for heart conditions.
GCM2 Gene Hypoparathyroidism Familial Isolated Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GCM2 gene associated with familial isolated hypoparathyroidism. Helps understand genetic risks for endocrine disorders.
CYCS Gene Thrombocytopenia Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CYCS gene for variations associated with Thrombocytopenia Type 4, a condition involving low platelet counts.
CEP63 Gene Microcephaly CEP63 Related Genetic Test
A genetic test using Next Generation Sequencing (NGS) to identify mutations in the CEP63 gene, which are associated with microcephaly and developmental delays. This test can help families understand the genetic basis of these conditions.
Msh2 Gene Mismatch Repair Cancer Syndrome Genetic Test
Genetic test to identify mutations in the MSH2 gene, associated with an increased risk of certain cancers like colorectal and endometrial cancer. Helps individuals understand their genetic predisposition.
Karyotyping For Detection of Fragile X Syndrome
Karyotyping for Detection of Fragile X Syndrome is a genetic test identifying chromosomal changes linked to Fragile X Syndrome, aiding in diagnosis and management.
HCV Genotyping 1234 RNA Detection Qualitative Test
This test identifies the specific type (genotype) of the Hepatitis C virus (HCV) RNA in your blood. Knowing the genotype helps doctors choose the most effective treatment plan.
Cancer Targeted Gene Panel Gastrointestinal Stromal Tumor GIST Test
Genetic test to identify mutations in genes associated with Gastrointestinal Stromal Tumors (GIST), aiding in diagnosis and personalized treatment planning.
Thalassemia Beta Complete Gene Analysis with MCC Test
Comprehensive genetic test to identify mutations in the HBB gene associated with beta-thalassemia. Essential for individuals with a family history or symptoms of this genetic disorder.
KIF7 Gene Acrocallosal Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KIF7 gene, associated with acrocallosal syndrome and related neurological disorders. Confirm with the laboratory before booking.
GCH1 Gene DYT5A Genetic Test
Genetic test to identify mutations in the GCH1 gene associated with certain neurological disorders, such as Dystonia. Uses Next Generation Sequencing (NGS) technology.
SGCA Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2D Genetic Test
Genetic test to identify mutations in the SGCA gene associated with Limb-Girdle Muscular Dystrophy Type 2D (LGMD2D), a condition causing progressive muscle weakness. Helps in diagnosis and management.
DYSF Gene Myopathy Distal with Anterior Tibial Onset Genetic Test
This genetic test identifies mutations in the DYSF gene, which can cause distal myopathy with anterior tibial onset, a type of muscle disorder. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis.
PPP2R2B Gene Spinocerebellar Ataxia Type 12 Autosomal Dominant Genetic Test
This genetic test identifies mutations in the PPP2R2B gene associated with Spinocerebellar Ataxia Type 12 (SCA12), a hereditary neurological disorder. It uses Next Generation Sequencing (NGS) for accurate detection.
FANCE Gene Fanconi Anemia Type E Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the FANCE gene associated with Fanconi anemia type E. Recommended for individuals with a family history or symptoms suggestive of the condition.
PTF1A Gene Pancreatic and Cerebellar Agenesis Genetic Test
Genetic test for mutations in the PTF1A gene, associated with pancreatic and cerebellar agenesis. Helps diagnose metabolic disorders.
TNNI2 Gene Arthrogryposis Distal Type 2B Genetic Test
Genetic test to identify mutations in the TNNI2 gene associated with Arthrogryposis Distal Type 2B, a condition affecting muscle function and joint mobility.
ITGA3 Gene Interstitial Lung Disease Nephrotic Syndrome and Epidermolysis Bullosa Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ITGA3 gene associated with interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. Confirm with the laboratory before booking.
TMPO Gene Cardiomyopathy Dilated Type 1T Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TMPO gene associated with Dilated Cardiomyopathy (DCM). Helps in understanding genetic risk and informing management.
GATA3 Gene Hypoparathyroidism Sensorineural Deafness and Renal Dysplasia Genetic Test
This genetic test analyzes the GATA3 gene to identify mutations linked to hypoparathyroidism, sensorineural deafness, and renal dysplasia. It uses Next-Generation Sequencing (NGS) technology for accurate results.
GATA1 Gene Thrombocytopenia with Beta Thalassemia X-Linked Genetic Test
This genetic test analyzes the GATA1 gene to help diagnose thrombocytopenia associated with beta thalassemia, using Next-Generation Sequencing (NGS) technology.
MRE11 Gene Microcephaly MRE11A Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MRE11 gene for variations linked to microcephaly. Recommended for individuals with a family history of microcephaly or related conditions.
Msh6 Gene Mismatch Repair Cancer Syndrome Genetic Test
Genetic test for mutations in the MSH6 gene, associated with an increased risk of certain cancers like colorectal and endometrial cancer. Helps identify hereditary cancer predisposition.
Kras Mutation Screening Codons 12 13
Identifies specific mutations in the KRAS gene (codons 12 & 13), commonly found in certain cancers like colorectal cancer, to help guide treatment decisions.
Cancer Targeted Gene Panel Lung Test
The Cancer Targeted Gene Panel Lung Test identifies specific genetic mutations associated with lung cancer, guiding personalized treatment plans. Confirm with the laboratory before booking.
Leukemia Genetic Profile Any 6 Markers PCR Qualitative Test
Detects specific genetic markers associated with leukemias using PCR technology. Aids in diagnosis, treatment planning, and monitoring. Confirm with the laboratory before booking.
Acox1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ACOX1 gene, associated with Acyl-CoA oxidase deficiency and related neurological disorders. Confirm with the laboratory before booking.
THAP1 Gene DYT6 Genetic Test
The THAP1 Gene DYT6 NGS Genetic DNA Test uses advanced sequencing technology to identify mutations in the THAP1 gene, associated with DYT6 dystonia, a neurological disorder. This test aids in diagnosing genetic neurological conditions.
SGCB Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2E Genetic Test
Genetic test to identify mutations in the SGCB gene associated with Limb-girdle muscular dystrophy (LGMD) type 2E. This test uses Next Generation Sequencing (NGS) technology to detect genetic variations.
CAV3 Gene Myopathy Distal Tateyama Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CAV3 gene associated with Distal Tateyama Type Myopathy, a condition causing muscle weakness.
Kcnc3 Gene Spinocerebellar Ataxia Type 13 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the KCNC3 gene associated with Spinocerebellar Ataxia Type 13, a neurological disorder affecting coordination and balance.
FANCF Gene Fanconi Anemia Type F Genetic Test
Genetic test to identify mutations in the FANCF gene, associated with Fanconi Anemia Type F, a rare inherited disorder affecting DNA repair. Uses Next-Generation Sequencing (NGS) technology.
DCXR Gene Pentosuria Genetic Test
The DCXR Gene Pentosuria NGS Genetic DNA Test identifies genetic variations linked to Pentosuria, a metabolic disorder. Utilizes Next Generation Sequencing (NGS) for accurate diagnosis. Confirm price before booking.
PIEZO2 Gene Arthrogryposis Distal Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PIEZO2 gene associated with Arthrogryposis Distal Type 3. Helps in diagnosing genetic disorders related to joint and muscle abnormalities.
IRAK4 Gene Invasive Pneumococcal Disease Recurrent Isolated Type 1 Genetic Test
Genetic test to identify predispositions to recurrent pneumococcal infections by analyzing the IRAK4 gene using Next Generation Sequencing (NGS).
PSEN2 Gene Cardiomyopathy Dilated Type 1V Genetic Test
Genetic test to identify mutations in the PSEN2 gene associated with dilated cardiomyopathy, a type of heart disease. Uses Next Generation Sequencing (NGS) technology.
TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome Genetic Test
This genetic test analyzes the TBCE gene to identify mutations associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome. It uses Next-Generation Sequencing (NGS) technology to provide insights for individuals with relevant symptoms or family history.
ETV6 Gene Thrombocytopenia Type 5 Genetic Test
Genetic test to identify mutations in the ETV6 gene associated with Thrombocytopenia Type 5, a condition causing low platelet counts. Helps understand genetic predisposition and guide treatment.
QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test
Genetic test to identify mutations in the QARS1 gene, associated with microcephaly, progressive seizures, and cerebral/cerebellar atrophy. Helps in early diagnosis and management.
PMS2 Gene Mismatch Repair Cancer Syndrome Genetic Test
The PMS2 Gene Mismatch Repair Cancer Syndrome Genetic Test identifies mutations in the PMS2 gene, linked to an increased risk of certain cancers like Lynch syndrome. This test helps individuals understand their genetic predisposition for proactive health management.
Candida Albicans Detection PCR Test
Detects the presence of Candida albicans, a common fungus, using a sensitive PCR test. Essential for diagnosing fungal infections, especially in immunocompromised individuals.
Thalassemia Beta Trio Prenatal Mutation Detection Test
The Thalassemia Beta Trio Prenatal Mutation Detection Test helps expecting parents identify potential genetic disorders, like thalassemia, in their baby. This test analyzes DNA from both parents and amniotic fluid to screen for over 100 mutations.
ABCD1 Gene Adrenoleukodystrophy X-Linked Genetic Test
Genetic test to identify mutations in the ABCD1 gene associated with Adrenoleukodystrophy (ALD), a disorder affecting the nervous system and adrenal glands.
SLC2A1 Gene DYT8 Genetic Test
The SLC2A1 Gene DYT8 NGS Genetic DNA Test identifies mutations linked to neurological disorders like Dystonia. This test uses Next-Generation Sequencing (NGS) to analyze your genetic material, providing insights for diagnosis and management. Consult your doctor to see if this test is right for you.
TCAP Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2G Genetic Test
Genetic test to identify mutations in the TCAP gene associated with Limb-Girdle Muscular Dystrophy (LGMD) Type 2G, an autosomal recessive condition causing progressive muscle weakness.
TTN Gene Myopathy Early-Onset with Fatal Cardiomyopathy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TTN gene associated with early-onset myopathy and fatal cardiomyopathy. Helps in early diagnosis and management.
WWOX Gene Spinocerebellar Ataxia Type 12 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the WWOX gene associated with Spinocerebellar Ataxia Type 12, a neurological disorder affecting coordination and balance. It uses Next-Generation Sequencing (NGS) technology.
FANCG Gene Fanconi Anemia Type G Genetic Test
The FANCG Gene Fanconi Anemia Type G NGS Genetic DNA Test helps identify genetic predispositions to Fanconi anemia type G, a rare disorder affecting DNA repair. This test uses advanced Next Generation Sequencing (NGS) technology.
TNFRSF1A Gene Periodic Fever Autosomal Dominant Genetic Test
Genetic test for TNFRSF1A gene variations associated with periodic fever syndromes. Helps diagnose predispositions to these conditions.
TNNT3 Gene Arthrogryposis Distal Type 2B Genetic Test
Genetic test to identify mutations in the TNNT3 gene associated with Arthrogryposis Distal Type 2B, a condition affecting muscle and joint development.
IRAK4 Gene IRAK4 Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the IRAK4 gene, which can be linked to certain immunological disorders. Confirm with the laboratory before booking.
Fktn Gene Cardiomyopathy Dilated Type 1X Genetic Test
Genetic test to identify mutations in the FKTN gene associated with Dilated Cardiomyopathy Type 1X, aiding in the diagnosis and management of this heart condition.
CLCN5 Gene Hypophosphatemic Rickets Genetic Test
Genetic test to identify mutations in the CLCN5 gene, a cause of hypophosphatemic rickets. Helps diagnose the genetic basis of the condition for informed management.
ITGA2B Gene Thrombocytopenia Neonatal Alloimmune Genetic Test
Genetic test to identify mutations in the ITGA2B gene associated with neonatal alloimmune thrombocytopenia, a condition causing low platelet counts in newborns. Uses Next Generation Sequencing (NGS) technology.
MSMO1 Gene Microcephaly MSMO1 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the MSMO1 gene, helping identify genetic causes related to microcephaly. Genetic counseling is recommended before testing.
MMR Genes Gene MMR Genes Methylation Analysis Genetic Test
Assess your risk for hereditary cancers linked to MMR gene mutations with our Methylation Analysis test. Helps guide personalized prevention and treatment strategies.
Kras Nras
The KRAS/NRAS genetic test identifies mutations in the KRAS and NRAS genes, which can influence cancer treatment options, particularly targeted therapies. This test is important for guiding personalised cancer care.
Tcell Gene Rearrangement Mutation Detection Test
Detects genetic rearrangements in T-cell receptor genes, aiding in the diagnosis and management of certain cancers. Confirm with the laboratory before booking.
PLXNB3 Gene Adrenoleukodystrophy X-Linked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PLXNB3 gene associated with X-linked Adrenoleukodystrophy, a severe neurological disorder.
ARX Gene Early Infantile Epileptic Encephalopathy Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ARX gene, helping diagnose Early Infantile Epileptic Encephalopathy Type 1 (EIEE) and guide management.
TRIM32 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2H Genetic Test
Genetic test to identify mutations in the TRIM32 gene associated with Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2H. Recommended for individuals with symptoms or family history of the condition. Confirm pricing and turnaround time before booking.
MTAP Gene Myopathy Limb Girdle with Bone Fragility Genetic Test
This genetic test identifies mutations in the MTAP gene associated with Limb Girdle Myopathy and bone fragility. It uses Next Generation Sequencing (NGS) technology to provide insights for diagnosis and management.
GRM1 Gene Spinocerebellar Ataxia Type 13 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the GRM1 gene associated with Spinocerebellar Ataxia Type 13 (SCA13), a neurological disorder affecting coordination and balance.
FANCI Gene Fanconi Anemia Type I Genetic Test
The FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test identifies mutations in the FANCI gene associated with Fanconi anemia Type I, a rare genetic disorder affecting DNA repair. This test is important for diagnosis and management.
SLC7A5 Gene Phenylketonuria Modifier SLC7A5 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SLC7A5 gene, which can influence the severity of Phenylketonuria (PKU).
PIEZO2 Gene Arthrogryposis Distal Type 5 Genetic Test
This genetic test identifies mutations in the PIEZO2 gene associated with Arthrogryposis Distal Type 5, a condition causing joint stiffness and muscle weakness. It uses Next Generation Sequencing (NGS) technology for accurate results.
IKBKG Gene Invasive Pneumococcal Disease Recurrent Isolated Type 2 Genetic Test
Genetic test for the IKBKG gene to assess predisposition to recurrent invasive pneumococcal disease and immunological disorders. Helps identify individuals at risk.
VCL Gene Cardiomyopathy Dilated Type 1W Genetic Test
Genetic test to identify mutations in the VCL gene associated with dilated cardiomyopathy, a condition affecting heart muscle function. Helps assess risk and guide management.
Tshr Gene Hypothyroidism Congenital Nongoitrous Type 1 Genetic Test
Genetic test to identify mutations in the TSHR gene associated with congenital nongoitrous hypothyroidism. Helps in early diagnosis and management of thyroid disorders.
ITGB3 Gene Thrombocytopenia Neonatal Alloimmune Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ITGB3 gene associated with neonatal alloimmune thrombocytopenia (NAIT).
Rttn Gene Microcephaly Short Stature and Polymicrogyria with Seizures Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the RTTN gene, aiding in the diagnosis of conditions associated with microcephaly, short stature, polymicrogyria, and seizures.
MPL Gene MPL Selective Sequencing of Exon 10 Genetic Test
The MPL Gene MPL Selective Sequencing of Exon 10 NGS Genetic DNA Test uses advanced technology to assess genetic predispositions to cancer, particularly for individuals with a family history. This test provides valuable insights for early detection and personalized healthcare planning.
ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ABCD1 gene, aiding in the diagnosis of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN).
PNKP Gene Early Infantile Epileptic Encephalopathy Type 10 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PNKP gene, associated with early infantile epileptic encephalopathy. Helps understand the genetic cause of neurological symptoms.
FKRP Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2I Genetic Test
Genetic test to identify mutations in the FKRP gene associated with Limb-girdle muscular dystrophy type 2I (LGMD2I). Helps in diagnosis and understanding genetic risk.
YARS2 Gene Myopathy Lactic Acidosis and Sideroblastic Anemia Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the YARS2 gene associated with myopathy, lactic acidosis, and sideroblastic anemia. Helps in early diagnosis and management of related neurological disorders.
PRKCG Gene Spinocerebellar Ataxia Type 14 Autosomal Dominant Genetic Test
This genetic test identifies mutations in the PRKCG gene associated with Spinocerebellar Ataxia Type 14 (SCA14), an inherited neurological disorder affecting coordination and balance. It uses Next-Generation Sequencing (NGS) technology.
BRIP1 Gene Fanconi Anemia Type J Genetic Test
Genetic test to identify mutations in the BRIP1 gene associated with Fanconi anemia type J, using Next Generation Sequencing (NGS) technology.
PAH Gene Phenylketonuria Genetic Test
The PAH Gene Phenylketonuria (PKU) Genetic Test identifies mutations in the PAH gene, which can cause PKU, a metabolic disorder. Early detection is crucial for management. Confirm price and availability before booking.
ECEL1 Gene Arthrogryposis Distal Type 5D Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ECEL1 gene associated with Arthrogryposis Distal Type 5D.
AAGAB Gene Keratoderma Palmoplantar Punctate Type 1A Genetic Test
Genetic test to identify mutations in the AAGAB gene associated with palmoplantar keratoderma, a condition causing thickened skin on palms and soles.
TNNC1 Gene Cardiomyopathy Dilated Type 1Z Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TNNC1 gene associated with dilated cardiomyopathy. Helps assess risk and guide management.
PAX8 Gene Hypothyroidism Congenital Nongoitrous Type 2 Familial Genetic Test
This genetic test identifies mutations in the PAX8 gene associated with congenital nongoitrous hypothyroidism, a type of thyroid disorder present from birth. Early detection helps in managing the condition effectively.
GATA1 Gene Thrombocytopenia Xlinked Genetic Test
Genetic test to identify mutations in the GATA1 gene associated with X-linked thrombocytopenia, a condition affecting platelet count. Helps in diagnosis and management.
TUBB2B Gene Microcephaly TUBB2B Related Genetic Test
The TUBB2B Gene Microcephaly test identifies genetic mutations in the TUBB2B gene linked to microcephaly, a condition causing an abnormally small head and potential developmental issues. This Next Generation Sequencing (NGS) test is important for families with a history of dysmorphology.
MLH1 Gene Muir-Torre Syndrome Genetic Test
This genetic test analyzes the MLH1 gene to assess your risk for Muir-Torre syndrome and associated cancers, like colorectal and skin cancer. It uses Next-Generation Sequencing (NGS) technology.
Human Papillomavirus 16 18 HPV Viral Load Quantitative Test
This test measures the amount of high-risk Human Papillomavirus (HPV) types 16 and 18 in a cervical sample. It helps assess the risk of cervical cancer progression and guides management.
SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the SLC12A6 gene, associated with agenesis of the corpus callosum and peripheral neuropathy. Helps identify genetic predispositions to neurological disorders.
PLCB1 Gene Early Infantile Epileptic Encephalopathy Type 12 Genetic Test
Genetic test to identify mutations in the PLCB1 gene associated with early infantile epileptic encephalopathy, aiding in diagnosis and management.
TTN Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2J Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TTN gene associated with Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2J (LGMD2J).
GFER Gene Myopathy Mitochondrial Progressive with Congenital Cataract Hearing Loss and Developmental Delay Genetic Test
Genetic test to identify mutations in the GFER gene, associated with mitochondrial myopathy, congenital cataracts, hearing loss, and developmental delays. Utilizes Next Generation Sequencing (NGS) technology.
ITPR1 Gene Spinocerebellar Ataxia Type 15 Genetic Test
Genetic test to detect mutations in the ITPR1 gene associated with Spinocerebellar Ataxia Type 15 (SCA15), a condition affecting coordination and balance.
FANCL Gene Fanconi Anemia Type L Genetic Test
The FANCL Gene Fanconi Anemia Type L NGS Genetic DNA Test identifies mutations in the FANCL gene associated with Fanconi anemia, a rare metabolic disorder. This test is important for individuals with a family history of the condition.
PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PCK2 gene, aiding in the diagnosis of phosphoenolpyruvate carboxykinase deficiency, a metabolic disorder.
MYH8 Gene Arthrogryposis Distal Type 7 Genetic Test
This genetic test identifies mutations in the MYH8 gene associated with arthrogryposis distal type 7, a condition causing joint stiffness and muscle weakness. It helps in diagnosis, management, and family planning.
MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans Xlinked Genetic Test
Genetic test for mutations in the MBTPS2 gene associated with Keratosis Follicularis Spinulosa Declavans, a skin disorder. Uses Next Generation Sequencing (NGS) technology.
TPM1 Gene Cardiomyopathy Dilated Type 1Y Genetic Test
This genetic test identifies mutations in the TPM1 gene linked to Dilated Cardiomyopathy Type 1Y. It helps assess genetic risk for individuals with a family history or symptoms of heart muscle disease.
Tshb Gene Hypothyroidism Congenital Nongoitrous Type 4 Genetic Test
Genetic test to identify mutations in the TSHB gene associated with congenital hypothyroidism, a condition affecting thyroid hormone production. Uses Next Generation Sequencing (NGS) technology.
JAK2 Gene Thrombocytosis Familial JAK2 Related Genetic Test
Genetic test to identify mutations in the JAK2 gene associated with familial thrombocytosis, helping understand risks for elevated platelet counts.
YWHAE Gene Miller Dieker Lissencephaly Syndrome Genetic Test
Genetic test to identify mutations in the YWHAE gene associated with Miller-Dieker Lissencephaly Syndrome, aiding in the diagnosis and management of developmental disorders.
CDKN2B Gene Multiple Endocrine Neoplasia Type 1 CDKN2B Related Genetic Test
Genetic test analyzing the CDKN2B gene to assess risks associated with Multiple Endocrine Neoplasia Type 1 (MEN1) and related conditions. Helps identify predisposition to certain cancers.
Human Papillomavirus 16 & 18 HPV RNA Detection Qualitative Test
Detects high-risk Human Papillomavirus (HPV) types 16 and 18, linked to cervical cancer risk, using a sensitive RNA detection method.
Apo E Genotyping Test
The Apo E Genotyping Test assesses genetic susceptibility to certain neurological disorders, like Alzheimer's disease. It helps understand your genetic risk factors.
RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the RNASEH2B gene associated with Aicardi-Goutieres Syndrome Type 2, a rare neurological disorder. Helps in diagnosis and management.
SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 Genetic Test
Genetic test to identify mutations in the SCN2A gene associated with early infantile epileptic encephalopathy (EIEE) type 11. Helps diagnose neurological disorders in infants with seizures or developmental delays.
POMT1 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2K Genetic Test
This genetic test identifies mutations in the POMT1 gene, associated with a specific type of limb-girdle muscular dystrophy (LGMD). It uses Next-Generation Sequencing (NGS) for accurate diagnosis.
MTTQ Gene Myopathy MTTQ Related Genetic Test
The MTTQ Gene Myopathy NGS Genetic DNA Test identifies mutations in the MTTQ gene associated with neurological disorders. This test aids in diagnosing myopathy and related conditions, guiding treatment and family planning. Genetic counseling is recommended prior to testing. Available across Kenya with home sample collection.
TBP Gene Spinocerebellar Ataxia Type 17 Autosomal Dominant Genetic Test
Genetic test for mutations in the TBP gene associated with Spinocerebellar Ataxia Type 17 (SCA17), a hereditary neurological disorder affecting coordination and balance. Uses Next Generation Sequencing (NGS) technology.
FANCM Gene Fanconi Anemia Type M Genetic Test
Genetic test to identify mutations in the FANCM gene associated with Fanconi anemia type M, a rare disorder affecting DNA repair and increasing cancer risk.
PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic Genetic Test
Genetic test to identify mutations in the PCK1 gene associated with phosphoenolpyruvate carboxykinase deficiency, a metabolic disorder. Helps guide diagnosis and management.
SLC35A3 Gene Arthrogryposis Mental Retardation and Seizures Genetic Test
This genetic test identifies mutations in the SLC35A3 gene, associated with conditions including arthrogryposis, developmental delays, and seizures. It helps in diagnosing and managing these related disorders.
POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the POMP gene for conditions like Keratosis Linearis, Ichthyosis Congenita, and Sclerosing Keratoderma. Helps diagnose specific skin disorders and guide treatment.
TNNI3 Gene Cardiomyopathy Dilated Type 2A Genetic Test
Genetic test to identify mutations in the TNNI3 gene associated with dilated cardiomyopathy (DCM), a condition affecting heart muscle function. Useful for individuals with a family history of heart disease.
TRHR Gene Hypothyroidism Isolated TRHR Related Genetic Test
Genetic test to identify mutations in the TRHR gene associated with isolated hypothyroidism using Next-Generation Sequencing (NGS).
WAS Gene Thrombocytopenia X-Linked Intermittent Genetic Test
This genetic test identifies mutations in the WAS gene, which cause Wiskott-Aldrich Syndrome (WAS). WAS is a rare genetic disorder affecting blood platelets, immune function, and skin. This test helps diagnose WAS in individuals with relevant symptoms or family history.
CEP57 Gene Mosaic Variegated Aneuploidy Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect variations in the CEP57 gene, associated with mosaic variegated aneuploidy syndrome type 2. Helps identify genetic factors contributing to physical and developmental abnormalities.
Msh2 Gene Muir-Torre Syndrome Genetic Test
This genetic test identifies mutations in the MSH2 gene associated with Muir-Torre syndrome, which increases the risk of certain cancers like colorectal and skin cancers. Understanding your genetic risk is key for early detection and management.
HSV 1 2 DNA Detection RNA Detection Qualitative Test
Detects the presence of Herpes Simplex Virus types 1 and 2 (HSV-1 and HSV-2) using Real Time PCR technology. Helps confirm active infection and differentiate between virus types.
17 Hydroxyprogesterone Newborn Screen CAH Screen Test
Screening test for newborns to detect Congenital Adrenal Hyperplasia (CAH) by measuring 17 Hydroxyprogesterone levels. Early detection allows for timely management.
TREX1 Gene Aicardi-Goutieres Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the TREX1 gene, associated with Aicardi-Goutieres Syndrome (AGS), a severe neurological disorder. It uses Next Generation Sequencing (NGS) technology for accurate analysis.
KCNT1 Gene Early Infantile Epileptic Encephalopathy Type 14 Genetic Test
This genetic test identifies mutations in the KCNT1 gene, which can cause early infantile epileptic encephalopathy, a severe neurological disorder in infants. It uses Next-Generation Sequencing (NGS) technology to analyze DNA from a blood sample.
ANO5 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2L Genetic Test
Genetic test to identify mutations in the ANO5 gene associated with Limb-Girdle Muscular Dystrophy Type 2L (LGMD2L). This test uses Next-Generation Sequencing (NGS) on a blood sample to help diagnose this inherited muscle disorder.
BAG3 Gene Myopathy Myofibrillar Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the BAG3 gene associated with Myofibrillar Myopathy Type 6. Helps diagnose the genetic cause of muscle weakness and related symptoms.
CWF19L1 Gene Spinocerebellar Ataxia Type 17 Autosomal Recessive Genetic Test
This genetic test analyzes the CWF19L1 gene to detect mutations associated with Spinocerebellar Ataxia Type 17, a hereditary neurological disorder. It is useful for individuals with a family history of neurological conditions.
SLX4 Gene Fanconi Anemia Type P Genetic Test
Genetic test to identify mutations in the SLX4 gene associated with Fanconi anemia type P, using Next-Generation Sequencing (NGS) technology.
PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test
Genetic test to identify mutations in the PHGDH gene, associated with phosphoglycerate dehydrogenase deficiency, a metabolic disorder. Utilizes Next Generation Sequencing (NGS) for accurate results.
VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the VPS33B gene for mutations linked to arthrogryposis, renal dysfunction, and cholestasis. Helps in diagnosing hereditary conditions.
DSP Gene Keratosis Palmoplantaris Striata Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the DSP gene associated with Keratosis Palmoplantaris Striata Type 2. Helps understand genetic risk for this skin condition.
DMD Gene Cardiomyopathy Dilated Type 3B Genetic Test
This genetic test identifies mutations in the DMD gene linked to dilated cardiomyopathy (DCM), a condition affecting the heart muscle. It uses Next-Generation Sequencing (NGS) technology for accurate results. Confirm with the laboratory before booking.
THRA Gene Hypothyroidism Congenital Nongoitrous Type 6 Genetic Test
Genetic test to identify mutations in the THRA gene associated with congenital hypothyroidism, a condition that can affect development if not detected early.
F9 Gene Thrombophilia Xlinked Due To Factor IX Defect Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the F9 gene, associated with an increased risk of thrombotic disorders like blood clots. Confirm with the laboratory before booking.
TRIM37 Gene Mulibrey Nanism Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to detect mutations in the TRIM37 gene, associated with Mulibrey nanism. It helps diagnose the condition in individuals with relevant symptoms or family history.
RET Gene Multiple Endocrine Neoplasia Type 2A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RET gene associated with Multiple Endocrine Neoplasia Type 2A (MEN2A), a condition linked to specific cancers.
RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the RNASEH2C gene associated with Aicardi-Goutieres Syndrome Type 3, a rare neurological disorder.
SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 Genetic Test
Genetic test to identify mutations in the SCN8A gene associated with Early Infantile Epileptic Encephalopathy (EIEE), a severe neurological disorder in infants. Helps guide diagnosis and management.
Fktn Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2M Genetic Test
Genetic test to identify mutations in the FKTN gene associated with Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2M (LGMD2M). Helps diagnose the condition and understand inheritance patterns.
DES Gene Myopathy Myofibrillar Desmin Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DES gene associated with myofibrillar myopathy. Helps diagnose the condition and guide treatment.
IFRD1 Gene Spinocerebellar Ataxia Type 18 Autosomal Dominant Genetic Test
This genetic test analyzes the IFRD1 gene to identify mutations associated with Spinocerebellar Ataxia Type 18 (SCA18), a hereditary neurological disorder. It uses Next-Generation Sequencing (NGS) technology.
PALB2 Gene Fanconi Anemia Type N Genetic Test
This genetic test identifies mutations in the PALB2 gene associated with Fanconi anemia type N, a rare condition affecting DNA repair. It uses Next-Generation Sequencing (NGS) technology to analyze DNA for variants that may increase risk.
PSAT1 Gene Phosphoserine Aminotransferase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PSAT1 gene, associated with phosphoserine aminotransferase deficiency, a rare metabolic disorder. Helps diagnose metabolic conditions and understand potential health risks.
WISP3 Gene Arthropathy Progressive Pseudorheumatoid of Childhood Genetic Test
Genetic test for mutations in the WISP3 gene, associated with progressive pseudorheumatoid arthropathy in children. Helps identify genetic predispositions related to osteology and dermatology.
DSG1 Gene Keratosis Palmoplantaris Striata Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DSG1 gene associated with keratosis palmoplantaris striata type 1, a skin condition affecting palms and soles.
GATAD1 Gene Cardiomyopathy Dilated Type 2B Genetic Test
Genetic test to identify mutations in the GATAD1 gene associated with dilated cardiomyopathy, a type of heart disease. Helps assess risk and guide management.
MCM4 Gene Immunodeficiency with Natural Killer Cell Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MCM4 gene, associated with immune deficiencies, particularly affecting Natural Killer (NK) cells.
TBXAS1 Gene Thromboxane Synthase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TBXAS1 gene, associated with thromboxane synthase deficiency. Helps diagnose related hematological and cardiovascular conditions.
PIGN Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 Genetic Test
Genetic test analyzing the PIGN gene for mutations linked to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1. Helps in diagnosing genetic conditions associated with congenital anomalies, hypotonia, and seizures.
RET Gene Multiple Endocrine Neoplasia Type 2B Genetic Test
This genetic test identifies mutations in the RET gene associated with Multiple Endocrine Neoplasia Type 2B (MEN2B), a condition increasing the risk of specific cancers. It helps in early diagnosis and management for individuals at risk.
Cardiolipin Antibodies Panel IgG IgA IgM Test
This test detects Cardiolipin antibodies (IgG, IgA, IgM) to help evaluate potential risks for thromboembolic disorders and antiphospholipid syndrome.
RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 Genetic Test
This genetic test identifies mutations in the RNASEH2A gene associated with Aicardi-Goutieres syndrome, a rare neurological disorder. It uses Next-Generation Sequencing (NGS) to analyze DNA.
ST3GAL3 Gene Early Infantile Epileptic Encephalopathy Type 15 Genetic Test
Genetic test analyzing the ST3GAL3 gene to help diagnose early infantile epileptic encephalopathy, a severe neurological condition in infants. Utilizes Next-Generation Sequencing (NGS) technology.
POMT1 Gene Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N Genetic Test
This genetic test identifies mutations in the POMT1 gene, associated with Limb-Girdle Muscular Dystrophy Autosomal Recessive Type 2N. It helps diagnose this condition, characterized by progressive muscle weakness.
CRYAB Gene Myopathy Myofibrillar Fatal Infantile Hypertrophy AlphaB Crystallin-Related Genetic Test
This genetic test identifies mutations in the CRYAB gene, associated with myofibrillar myopathy, a rare neurological disorder. It aids in early diagnosis and personalized management for individuals with relevant symptoms or family history.
Grid2 Gene Spinocerebellar Ataxia Type 18 Autosomal Recessive Genetic Test
Genetic test for mutations in the GRID2 gene associated with Spinocerebellar Ataxia Type 18, a hereditary neurological disorder affecting coordination and balance.
XRCC2 Gene Fanconi Anemia XRCCR2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the XRCC2 gene associated with Fanconi anemia and related metabolic disorders. Recommended for individuals with a family history or symptoms suggestive of the condition.
PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PRPS1 gene for mutations associated with metabolic disorders. Helps identify phosphoribosylpyrophosphate synthetase superactivity.
VIPAS39 Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the VIPAS39 gene, associated with Arthrogryposis, Renal Dysfunction, and Cholestasis Type 2. Aids in diagnosis and management.
FBLIM1 Gene Kindler Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the FBLIM1 gene associated with Kindler syndrome. Helps in diagnosing this rare skin disorder.
DNAJC19 Gene Cardiomyopathy Dilated with Ataxia Genetic Test
Genetic test to identify mutations in the DNAJC19 gene associated with dilated cardiomyopathy and ataxia, aiding in early diagnosis and risk management.
CR2 Gene Immunodeficiency Common Variable Type 7 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CR2 gene associated with Common Variable Immunodeficiency Type 7. Helps diagnose immunodeficiency disorders.
ADAMTS13 Gene Thrombotic Thrombocytopenic Purpura Genetic Test
Genetic test to identify mutations in the ADAMTS13 gene, associated with Thrombotic Thrombocytopenic Purpura (TTP), a serious blood disorder. Helps in diagnosing TTP and guiding management.
B3GAT3 Gene Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism and Congenital Heart Defects Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the B3GAT3 gene for mutations linked to multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects.
CDKN1B Gene Multiple Endocrine Neoplasia Type 4 Genetic Test
Genetic test for CDKN1B gene mutations associated with Multiple Endocrine Neoplasia Type 4 (MEN4). Helps assess cancer risk.
Cancer Gene Any 3 Markers NGS Test
Identify specific genetic mutations linked to cancer risk or treatment response using our Cancer Gene Any 3 Markers NGS Test. This advanced test analyzes three chosen genes from a comprehensive list using Next Generation Sequencing (NGS) technology.
Parvovirus B19 Qualitative PCR Test
Detects the presence of Parvovirus B19 DNA in blood or cerebrospinal fluid (CSF) using a sensitive PCR method. Important for diagnosing infections, especially in pregnant women and immunocompromised individuals.
SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SAMHD1 gene associated with Aicardi-Goutieres syndrome type 5, a rare neurological disorder.
GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 Genetic Test
Genetic test to identify mutations in the GNAO1 gene associated with early infantile epileptic encephalopathy, aiding in diagnosis and management.
NDE1 Gene Lissencephaly Type 4 with Microcephaly Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NDE1 gene associated with Lissencephaly Type 4 and Microcephaly.
LDB3 Gene Myopathy Myofibrillar ZASP Related Genetic Test
Genetic test to identify mutations in the LDB3 gene associated with myofibrillar myopathy, a condition affecting muscle function. Utilizes Next-Generation Sequencing (NGS) technology.
ATXN2 Gene Spinocerebellar Ataxia Type 2 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the ATXN2 gene associated with Spinocerebellar Ataxia Type 2 (SCA2), a neurological disorder affecting coordination and balance.
SLC2A2 Gene Fanconi-Bickel Syndrome Genetic Test
Genetic test to identify mutations in the SLC2A2 gene, associated with Fanconi-Bickel Syndrome, a rare metabolic disorder. Helps in diagnosis and management.
PSPH Gene Phosphoserine Phosphatase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PSPH gene, aiding in the diagnosis of phosphoserine phosphatase deficiency and related metabolic disorders. Confirm with the laboratory before booking.
FLNB Gene Atelosteogenesis Type 1 Genetic Test
The FLNB Gene Atelosteogenesis Type 1 NGS Genetic DNA Test identifies mutations in the FLNB gene linked to skeletal and dermatological disorders. This test uses Next-Generation Sequencing (NGS) technology.
LAMA3 Gene Laryngoonychocutaneous Syndrome Genetic Test
Genetic test to identify mutations in the LAMA3 gene associated with laryngoonychocutaneous syndrome. Helps in early diagnosis and management.
LMNA Gene Cardiomyopathy Dilated with Hypergonadotropic Hypogonadism Genetic Test
This genetic test analyzes the LMNA gene to identify mutations associated with dilated cardiomyopathy and hypergonadotropic hypogonadism, aiding in diagnosis and management.
PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PREPL gene, aiding in the diagnosis of hypotonia-cystinuria syndrome.
GGCX Gene Vitamin K-Dependent Clotting Factors Combined Deficiency Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GGCX gene associated with Vitamin K-Dependent Clotting Factors Combined Deficiency Type 1, an inherited bleeding disorder.
SMAD4 Gene Myhre Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SMAD4 gene associated with Myhre syndrome. Helps confirm diagnosis and understand genetic risks.
TET2 Gene Myelodysplastic Syndrome Somatic Genetic Test
Detects mutations in the TET2 gene associated with myelodysplastic syndromes (MDS) using Next Generation Sequencing (NGS). Aids in diagnosis and management.
Leigh Syndrome Mitochondrial Encephalopathy Gene Panel
A genetic test to identify mutations associated with Leigh Syndrome, a severe neurological disorder affecting mitochondrial function. Helps in early diagnosis and management.
Hhv 6 Dna Detection Rna Detection Qualitative Test
This test detects Human Herpesvirus 6 (HHV 6) DNA and RNA to help diagnose infections associated with symptoms like fever and rash. Utilizes Real Time PCR for accurate results.
Chromosome Analysis Karyotype Blood Test
Chromosome Analysis (Karyotype) Blood Test: Examines chromosomes for structural or numerical abnormalities associated with genetic disorders. Recommended for specific symptoms or family history. Confirm price and availability.
Cardiolipin Antibody IgG Test
The Cardiolipin Antibody IgG Test helps detect antibodies linked to an increased risk of blood clots (thromboembolic disorders).
ADAR Gene Aicardi-Goutieres Syndrome Type 6 Genetic Test
Genetic test to identify mutations in the ADAR gene associated with Aicardi-Goutieres syndrome, a rare neurological disorder. Uses Next Generation Sequencing (NGS) technology.
TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 Genetic Test
Genetic test for mutations in the TBC1D24 gene, associated with early infantile epileptic encephalopathy (EIEE). Helps diagnose specific neurological disorders in infants.
TRAPPC11 Gene Limbgirdle Muscular Dystrophy Autosomal Recessive Type 2S Genetic Test
Genetic test to identify mutations in the TRAPPC11 gene associated with Limb-Girdle Muscular Dystrophy (LGMD) type 2S, using Next Generation Sequencing (NGS).
ACTA1 Gene Myopathy Scapulohumeroperoneal Genetic Test
This genetic test identifies mutations in the ACTA1 gene associated with scapulohumeroperoneal myopathy, a rare neuromuscular disorder causing muscle weakness. It uses Next Generation Sequencing (NGS) technology.
KCND3 Gene Spinocerebellar Ataxia Type 22 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the KCND3 gene associated with Spinocerebellar Ataxia Type 22, a hereditary neurological disorder affecting coordination and balance.
ASAH1 Gene Farber Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ASAH1 gene associated with Farber disease, a metabolic disorder. Early detection aids management.
GPR161 Gene Pituitary Stalk Interruption Syndrome GPR161 Related Genetic Test
The GPR161 Gene Pituitary Stalk Interruption Syndrome Genetic Test identifies genetic variations in the GPR161 gene associated with metabolic disorders like Pituitary Stalk Interruption Syndrome. This test uses Next Generation Sequencing (NGS) technology.
HR Gene Atrichia with Papular Lesions Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HR gene associated with atrichia (hair loss) and papular skin lesions. Aids in diagnosing genetic skin disorders.
LIG4 Gene LIG4 Syndrome Genetic Test
The LIG4 Gene LIG4 Syndrome NGS Genetic DNA Test identifies mutations in the LIG4 gene associated with LIG4 syndrome, impacting osteology, dermatology, and immunology. Recommended for individuals with relevant symptoms or family history.
DSP Gene Cardiomyopathy Dilated with Woolly Hair and Keratoderma Genetic Test
Genetic test for mutations in the DSP gene associated with dilated cardiomyopathy, woolly hair, and keratoderma. Helps identify genetic risk for serious heart conditions.
NBAS Gene Infantile Liver Failure Syndrome Type 2 Genetic Test
This genetic test identifies mutations in the NBAS gene associated with Infantile Liver Failure Syndrome Type 2, using Next Generation Sequencing (NGS) technology. It aids in diagnosing genetic causes of severe liver dysfunction in infants.
VWF Gene von Willebrand Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the VWF gene, aiding in the diagnosis of von Willebrand disease, a common inherited bleeding disorder. Confirm with the laboratory before booking.
STAC3 Gene Native American Myopathy Genetic Test
Genetic test to identify mutations in the STAC3 gene associated with Native American myopathy, aiding in diagnosis and management.
JAK2 Gene Myelofibrosis Somatic Genetic Test
This genetic test identifies mutations in the JAK2 gene, often linked to myelofibrosis, a type of blood cancer. It uses Next-Generation Sequencing (NGS) to help guide diagnosis and treatment.
Liquid Biopsy 117 Gene Panel
The Liquid Biopsy 117 Gene Panel is an advanced genetic test analyzing 117 genes from a blood sample to detect mutations associated with various genetic disorders. It aids in early diagnosis and personalized treatment planning.
5 Fluorouracil 5FU Toxicity Test
The 5 Fluorouracil (5FU) Toxicity Test helps assess how your body processes the chemotherapy drug 5FU. It looks at the DPYD gene to identify potential risks of severe side effects, allowing doctors to adjust treatment plans for safer and more effective cancer care.
Cardiolipin Antibody IgA Test
The Cardiolipin Antibody IgA Test helps identify specific antibodies linked to potential blood clotting issues and certain pregnancy complications. Confirm with the laboratory before booking.
Ifih1 Gene Aicardi-Goutieres Syndrome Type 7 Genetic Test
Genetic test to identify mutations in the IFIH1 gene associated with Aicardi-Goutieres Syndrome Type 7, a rare neurological disorder. Aids in diagnosis and management.
GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 Genetic Test
Genetic test to identify mutations in the GABRA1 gene associated with early infantile epileptic encephalopathy, aiding in diagnosis and management of severe neurological disorders in infants.
OCRL Gene Lowe Oculocerebrorenal Syndrome Genetic Test
Genetic test to identify mutations in the OCRL gene associated with Lowe Oculocerebrorenal Syndrome. Helps diagnose and manage this condition affecting the eyes, brain, and kidneys.
STIM1 Gene Myopathy Tubular Aggregate Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the STIM1 gene, associated with Myopathy Tubular Aggregate Type 1. Helps diagnose and understand this specific type of myopathy.
TMEM240 Gene Spinocerebellar Ataxia Type 21 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the TMEM240 gene associated with Spinocerebellar Ataxia (SCA) type 21, using Next Generation Sequencing (NGS).
Lcat Gene Fish Eye Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the LCAT gene associated with Fish Eye Disease. Helps identify genetic risk for this rare metabolic disorder.
HMBS Gene Porphyria Acute Intermittent Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HMBS gene associated with Acute Intermittent Porphyria (AIP), a rare metabolic disorder.
FLNB Gene Atelosteogenesis Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FLNB gene associated with certain bone and skin conditions. Helps understand genetic risks and inform management.
TGFBR1 Gene Loeys-Dietz Syndrome Type 1A Genetic Test
This genetic test analyzes the TGFBR1 gene to identify mutations associated with Loeys-Dietz syndrome, a connective tissue disorder. It helps in early diagnosis and management.
MYH7 Gene Cardiomyopathy Familial Hypertrophic Type 1 Genetic Test
Genetic test for mutations in the MYH7 gene associated with Familial Hypertrophic Cardiomyopathy (HCM). Uses Next-Generation Sequencing (NGS) technology.
MAGT1 Gene Immunodeficiency X-Linked with Magnesium Defect Epstein-Barr Virus Infection and Neoplasia Genetic Test
This genetic test identifies mutations in the MAGT1 gene, associated with X-linked immunodeficiency, magnesium defects, Epstein-Barr virus susceptibility, and neoplasia. Utilizes Next-Generation Sequencing (NGS) for accurate results.
GP1BA Gene Von Willebrand Disease Platelet Type Genetic Test
Genetic test for von Willebrand disease, a bleeding disorder related to platelet function. Uses Next Generation Sequencing (NGS) to analyze the GP1BA gene. Confirm with the laboratory before booking.
NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the NALCN gene, associated with infantile neuroaxonal neurodegeneration and facial dysmorphism. Aids in diagnosing genetic conditions in infants.
SPRED1 Gene Neurofibromatosis Type 1 Like Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SPRED1 gene associated with Neurofibromatosis Type 1-Like Syndrome. Helps identify genetic predisposition for individuals with relevant symptoms or family history.
Cardiolipin Antibody IgM Test
The Cardiolipin Antibody IgM Test helps identify antibodies linked to autoimmune conditions and blood clotting risks. A blood sample is used for this test.
Liquid Biopsy cfDNA EGFR Test
A non-invasive blood test to detect specific EGFR gene mutations associated with lung and colorectal cancers, aiding in personalised treatment decisions.
DCPS Gene AlRaqad Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the DCPS gene associated with AlRaqad syndrome, a rare neurological disorder.
CDKL5 Gene Early Infantile Epileptic Encephalopathy Type 2 Genetic Test
Genetic test to identify mutations in the CDKL5 gene associated with early infantile epileptic encephalopathy type 2, aiding in diagnosis and management.
DCX Gene Lissencephaly Subcortical Laminal Heteropia X-Linked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DCX gene associated with neurological conditions like lissencephaly and subcortical laminal heteropia.
COL6A2 Gene Myosclerosis Autosomal Recessive Genetic Test
This genetic test identifies mutations in the COL6A2 gene, associated with myosclerosis, a rare neurological disorder. It uses Next-Generation Sequencing (NGS) technology to help diagnose the condition, particularly in individuals with a family history.
PDYN Gene Spinocerebellar Ataxia Type 23 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the PDYN gene associated with Spinocerebellar Ataxia Type 23 (SCA23), a neurological disorder. Utilizes Next Generation Sequencing (NGS) technology.
G6PD Gene Favism Susceptibility to Genetic Test
This genetic test identifies mutations in the G6PD gene, assessing your risk for G6PD deficiency, a condition that can cause hemolytic anemia, especially when exposed to triggers like certain foods or medications.
UROS Gene Porphyria Congenital Erythropoietic Genetic Test
Genetic test for mutations in the UROS gene associated with Congenital Erythropoietic Porphyria (CEP), a rare metabolic disorder. Helps identify genetic risks and inform management.
IKBKG Gene Atypical Mycobacterial Infection Genetic Test
Genetic test analyzing the IKBKG gene to identify predispositions to atypical mycobacterial infections, using Next Generation Sequencing (NGS).
TGFBR2 Gene Loeys-Dietz Syndrome Type 1B Genetic Test
Genetic test to detect mutations in the TGFBR2 gene associated with Loeys-Dietz syndrome, aiding in early diagnosis and management.
CAV3 Gene Cardiomyopathy Familial Hypertrophic Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CAV3 gene associated with Familial Hypertrophic Cardiomyopathy (HCM). Helps assess genetic risk for this heart condition.
FAN1 Gene Interstitial Nephritis Karyomegalic Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FAN1 gene associated with interstitial nephritis and kidney disorders.
Dysmorphology Panel Genetic Test
The Dysmorphology Panel Genetic Test uses advanced DNA sequencing to identify genetic disorders associated with physical abnormalities, aiding in early diagnosis and management, especially in children.
ALK Gene Neuroblastoma Type 3 Susceptibility to Familial Genetic Test
This genetic test assesses the ALK gene for mutations linked to an increased risk of developing neuroblastoma, a childhood cancer. It is recommended for families with a history of the disease.
PRKAR1A Gene Myxoma Intracardiac Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PRKAR1A gene, identifying mutations linked to myxomas and certain cancers. Recommended for individuals with a family history of these conditions.
Culture Aerobic Bronchoalveolar Lavage BAL Test
The Culture Aerobic Bronchoalveolar Lavage (BAL) Test helps diagnose respiratory infections by identifying microorganisms in lung fluid. It's used to understand lung conditions and guide treatment.
Carnitine Serum Test
The Carnitine Serum Test measures carnitine levels in the blood to help diagnose metabolic disorders related to carnitine deficiency. This test is important for assessing energy production processes in the body.
Hemochromatosis Detection HFE Genotyping Test
The Hemochromatosis Detection HFE Genotyping Test identifies genetic mutations linked to hereditary hemochromatosis, a condition causing excessive iron accumulation. Early detection aids in managing potential health risks.
SLC16A2 Gene Allan-Herndon-Dudley Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SLC16A2 gene associated with Allan-Herndon-Dudley syndrome, a rare neurological disorder. Helps in diagnosis and management.
PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PIGA gene associated with early infantile epileptic encephalopathy, a severe neurological disorder in infants. Recommended for infants with seizures or developmental delays.
XBP1 Gene Major Affective Disorder 7 Genetic Test
The XBP1 Gene Major Affective Disorder 7 NGS Genetic DNA Test analyzes the XBP1 gene to identify genetic variations linked to major affective disorders, aiding in diagnosis and personalized treatment.
MYH7 Gene Myosin Storage Myopathy Genetic Test
Genetic test for mutations in the MYH7 gene, associated with myosin storage myopathy. Helps diagnose the genetic cause of muscle weakness and dysfunction.
Eef2 Gene Spinocerebellar Ataxia Type 26 Autosomal Dominant Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the EEF2 gene associated with Spinocerebellar Ataxia (SCA) type 26, a hereditary neurological disorder.
Aldob Gene Fructose Intolerance Genetic Test
Genetic test to identify mutations in the ALDOB gene associated with fructose intolerance, a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
PPOX Gene Porphyria Variegata Genetic Test
Genetic test to identify mutations in the PPOX gene associated with Porphyria variegata, a metabolic disorder. Helps in early diagnosis and management.
IFNGR2 Gene Atypical Mycobacterial Infection Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the IFNGR2 gene associated with susceptibility to atypical mycobacterial infections. Useful for individuals with recurrent infections or a family history of immunological disorders.
SMAD3 Gene Loeys-Dietz Syndrome Type 1C Genetic Test
This genetic test identifies mutations in the SMAD3 gene associated with Loeys-Dietz syndrome type 1C, a condition affecting connective tissues, blood vessels, and bones. It is recommended for individuals with a family history or symptoms suggestive of the syndrome.
MYL2 Gene Cardiomyopathy Familial Hypertrophic Type 10 Genetic Test
Genetic test to identify mutations in the MYL2 gene associated with Familial Hypertrophic Cardiomyopathy (HCM). Helps in early detection and management.
NR1H4 Gene Intrahepatic Cholestasis of Pregnancy NR1H4 Related Genetic Test
Genetic test for pregnant women at risk of intrahepatic cholestasis, analyzing the NR1H4 gene using Next Generation Sequencing (NGS).
Ciliopathies Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in genes associated with ciliopathies, disorders caused by dysfunctional cilia. Helps diagnose conditions related to dysmorphology and family history.
SMARCA2 Gene Nicolaides Baraitser Syndrome Genetic Test
Genetic test to identify mutations in the SMARCA2 gene associated with Nicolaides-Baraitser syndrome, a condition characterized by distinct facial features and developmental delays.
PMS1 Gene Nonpolyposis Hereditary Colon Cancer PMS1 Related Genetic Test
Genetic test to identify mutations in the PMS1 gene, associated with an increased risk of hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. Helps in early detection and management.
ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ATRX gene. Helps identify genetic mutations linked to alpha-thalassemia and mental retardation syndromes, aiding in understanding neurological conditions.
NECAP1 Gene Early Infantile Epileptic Encephalopathy Type 21 Genetic Test
This genetic test identifies mutations in the NECAP1 gene, which can cause early infantile epileptic encephalopathy (EIEE), a severe neurological condition in infants. It helps diagnose the genetic basis of seizures and developmental delays.
CACNA1S Gene Malignant Hyperthermia Type 5 Genetic Test
This genetic test identifies potential risks for Malignant Hyperthermia Type 5, a severe reaction to certain anesthetics, by analysing the CACNA1S gene. It is important for individuals with a family history of this condition to ensure safety during surgical procedures.
MYOT Gene Myotilinopathy Genetic Test
This genetic test identifies mutations in the MYOT gene, which are associated with myotilinopathy, a rare form of muscular dystrophy. It uses Next-Generation Sequencing (NGS) technology to provide insights into genetic predispositions affecting muscle function.
Fgf14 Gene Spinocerebellar Ataxia Type 27 Autosomal Dominant Genetic Test
This genetic test identifies mutations in the FGF14 gene associated with Spinocerebellar Ataxia Type 27, a hereditary neurological disorder affecting coordination and balance. Understanding your genetic risk is key for management and family planning.
SLC2A5 Gene Fructose Uptake Deficiency SLC2A5 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLC2A5 gene, aiding in the diagnosis of fructose uptake deficiency, a metabolic disorder. Confirm with the laboratory before booking.
PEPD Gene Prolidase Deficiency Genetic Test
Genetic test to identify mutations in the PEPD gene, associated with prolidase deficiency and related metabolic disorders. Helps in diagnosis and management.
IL12RB1 Gene Atypical Mycobacterial Infection Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the IL12RB1 gene associated with susceptibility to atypical mycobacterial infections. Helps guide personalized treatment.
TGFBR1 Gene Loeys-Dietz Syndrome Type 2A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the TGFBR1 gene, aiding in the diagnosis of Loeys-Dietz Syndrome Type 2A. Recommended for individuals with relevant symptoms or family history.
ACTC1 Gene Cardiomyopathy Familial Hypertrophic Type 11 Genetic Test
Genetic test to identify mutations in the ACTC1 gene associated with Familial Hypertrophic Cardiomyopathy (FHC), a hereditary heart condition. Helps assess risk and guide management.
Ubr1 Gene Johanson Blizzard Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the Ubr1 gene for mutations associated with Johanson Blizzard Syndrome. Helps in diagnosing this rare condition.
Noonan RASophathies Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations associated with Noonan syndrome and related disorders. Helps diagnose conditions linked to specific gene mutations.
NBN Gene Nijmegen Breakage Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the NBN gene, identifying risks associated with Nijmegen Breakage Syndrome (NBS). Suitable for individuals with relevant family history or symptoms.
EGFR Gene Nonsmall Cell Lung Cancer Familial Susceptibility to Genetic Test
Assess your genetic predisposition to nonsmall cell lung cancer (NSCLC) with the EGFR Gene Familial Susceptibility Test using Next-Generation Sequencing (NGS).
ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ATP1A2 gene, associated with Alternating Hemiplegia of Childhood Type 1. Helps diagnose this rare neurological condition.
Dock7 Gene Early Infantile Epileptic Encephalopathy Type 23 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the Dock7 gene, associated with early infantile epileptic encephalopathy. Recommended for infants with early seizures or developmental delays.
EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly Genetic Test
Genetic test to identify mutations in the EFTUD2 gene associated with Mandibulofacial Dysostosis with Microcephaly. Uses Next Generation Sequencing (NGS) technology.
CLCN1 Gene Myotonia Congenita Genetic Test
The CLCN1 Gene Myotonia Congenita NGS Genetic DNA Test identifies mutations in the CLCN1 gene associated with myotonia congenita, a condition causing muscle stiffness. This test aids in diagnosis and informs treatment and family planning.
AFG3L2 Gene Spinocerebellar Ataxia Type 28 Autosomal Dominant Genetic Test
Genetic test for mutations in the AFG3L2 gene associated with hereditary spinocerebellar ataxia type 28 (SCA28). Helps diagnose neurological disorders.
FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency Genetic Test
Genetic test to identify mutations in the FBP1 gene associated with fructose-1,6-bisphosphatase deficiency, a metabolic disorder. Helps diagnose conditions related to fructose metabolism.
PCCA Gene Propionic Acidemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PCCA gene associated with propionic acidemia, a metabolic disorder. Helps in early diagnosis and management.
Stat1 Gene Atypical Mycobacterial Infection Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the STAT1 gene associated with atypical mycobacterial infections. Helps assess risk and guide management.
FLT4 Gene Lymphedema Hereditary Type 1A Genetic Test
This genetic test identifies mutations in the FLT4 gene associated with Hereditary Lymphedema Type 1A, helping understand genetic risks and guide management.
CSRP3 Gene Cardiomyopathy Familial Hypertrophic Type 12 Genetic Test
Genetic test to identify mutations in the CSRP3 gene associated with Familial Hypertrophic Cardiomyopathy (HCM). Helps assess risk for individuals with a family history of heart disease.
FGFR1 Gene Kallmann Syndrome Type 2 Genetic Test
Genetic test analyzing the FGFR1 gene to help diagnose Kallmann Syndrome Type 2, a condition affecting puberty and sense of smell. Utilizes Next Generation Sequencing (NGS) technology.
PRKAR1A Gene Acrodysostosis Type 1 With or Without Hormone Resistance Genetic Test
Genetic test for Acrodysostosis Type 1, a condition affecting growth and hormone function. Uses Next-Generation Sequencing (NGS) to analyze the PRKAR1A gene. Confirm with the laboratory before booking.
SHOC2 Gene Noonan Syndrome Like Genetic Test
Genetic test using NGS to identify mutations in the SHOC2 gene, associated with Noonan syndrome and related disorders, particularly in children with dysmorphology.
NPM1 Gene NPM1 Selective Sequencing of Exon 11 Genetic Test
Genetic test analyzing the NPM1 gene (exon 11) using Next Generation Sequencing (NGS) to detect mutations relevant to certain cancers, particularly acute myeloid leukemia (AML).
H7N7 Influenza A RNA Detection Qualitative Test
Detects the H7N7 strain of the influenza A virus using Real Time PCR technology. Recommended for individuals with flu-like symptoms or potential exposure.
Hemoglobinopathy Newborn Screen Test
A vital newborn screening test to identify genetic blood disorders like sickle cell disease and thalassemia early. Early detection allows for timely management and intervention.
Phenylalanine Newborn Screen Test
A crucial newborn screening test to detect Phenylketonuria (PKU), an inherited metabolic disorder. Early detection allows for timely dietary management to prevent developmental issues.
APP Gene Alzheimer Disease Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the APP gene for variations associated with Alzheimer's disease type 1. Helps assess genetic predisposition.
Hcn1 Gene Early Infantile Epileptic Encephalopathy Type 24 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HCN1 gene associated with early infantile epileptic encephalopathy. Helps diagnose the genetic cause of severe neurological disorders in infants.
L1CAM Gene MASA Syndrome Genetic Test
Genetic test to identify mutations in the L1CAM gene associated with MASA syndrome, a rare neurological disorder. Helps in diagnosis and family planning.
CNBP Gene Myotonic Dystrophy Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CNBP gene associated with Myotonic Dystrophy Type 2 (DM2), a neurological disorder.
ITPR1 Gene Spinocerebellar Ataxia Type 29 Congenital Nonprogressive Genetic Test
Genetic test to identify mutations in the ITPR1 gene associated with Spinocerebellar Ataxia Type 29, a congenital nonprogressive neurological disorder. Utilizes Next-Generation Sequencing (NGS) technology.
KHK Gene Fructosuria Essential Genetic Test
Genetic test analysing the KHK gene to identify potential metabolic disorders related to fructose metabolism. Utilises Next-Generation Sequencing (NGS) technology.
PCCB Gene Propionic Acidemia Genetic Test
Genetic test to identify mutations in the PCCB gene associated with propionic acidemia, a metabolic disorder. Helps in diagnosis and management.
IL12RB2 Gene Atypical Mycobacterial Infection IL12RB2 Related Genetic Test
This genetic test analyzes the IL12RB2 gene to identify predispositions to atypical mycobacterial infections using next-generation sequencing (NGS).
TGFBR2 Gene Loeys-Dietz Syndrome Type 2B Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TGFBR2 gene for mutations associated with Loeys-Dietz syndrome Type 2B. Helps identify genetic predispositions for early detection and management.
JPH2 Gene Cardiomyopathy Familial Hypertrophic Type 17 Genetic Test
Genetic test for the JPH2 gene to identify predisposition to Familial Hypertrophic Cardiomyopathy (HCM). Helps assess risk for individuals and families.
ANOS1 Gene Kallmann Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the ANOS1 gene, aiding in the diagnosis of Kallmann syndrome, a condition affecting smell and reproductive development.
ZSWIM6 Gene Acromelic Frontonasal Dysostosis Genetic Test
The ZSWIM6 Gene Acromelic Frontonasal Dysostosis NGS Genetic DNA Test uses Next-Generation Sequencing to identify mutations in the ZSWIM6 gene associated with acromelic frontonasal dysostosis. This test helps diagnose this condition, characterized by distinctive facial features and limb abnormalities, aiding in management and counseling.
Ptpn11 Gene Noonan Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the PTPN11 gene associated with Noonan syndrome, a condition causing various health challenges. Early detection aids in management and improves quality of life. Confirm with the laboratory before booking.
NRAS Gene NRAS Selective Sequencing of Exons 2 and 3 Genetic Test
This genetic test analyzes specific parts of the NRAS gene (exons 2 and 3) using Next-Generation Sequencing (NGS) to detect mutations relevant to certain cancers, aiding in personalized treatment decisions.
H9N2 Influenza A Viral Load Quantitative Test
Measures the amount of H9N2 influenza virus in a sample to help assess infection severity and guide treatment.
Catecholamines Fractionated Random Urine Test
Measures catecholamine hormone levels (epinephrine, norepinephrine, dopamine) in urine to help detect certain tumors and assess stress response.
ATP1A3 Gene Alternating Hemiplegia of Childhood Type 2 Genetic Test
This genetic test analyzes the ATP1A3 gene to help diagnose Alternating Hemiplegia of Childhood Type 2, a neurological disorder. It uses Next-Generation Sequencing (NGS) technology.
SLC13A5 Gene Early Infantile Epileptic Encephalopathy Type 25 Genetic Test
Genetic test to identify mutations in the SLC13A5 gene associated with early infantile epileptic encephalopathy. Helps diagnose and manage neurological disorders in infants.
Piezo2 Gene MardenWalker Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PIEZO2 gene for mutations associated with MardenWalker syndrome, a neurological disorder. Helps in early detection and management.
DMPK Gene Myotonic Dystrophy Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DMPK gene for mutations associated with Myotonic Dystrophy Type 1, a hereditary neurological disorder.
ATXN3 Gene Spinocerebellar Ataxia Type 3 Autosomal Dominant Genetic Test
Genetic test to detect mutations in the ATXN3 gene associated with Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease. Helps identify genetic predispositions to neurological disorders.
FH Gene Fumarase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the FH gene, associated with fumarase deficiency, a rare metabolic disorder. Suitable for individuals with relevant symptoms or family history.
PSAP Gene Prosaposin Deficiency Genetic Test
Genetic test for mutations in the PSAP gene, associated with prosaposin deficiency, a rare metabolic disorder. Helps diagnose and understand genetic risks.
FAS Gene Autoimmune Lymphoproliferative Syndrome Type 1A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FAS gene for mutations associated with Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A. Helps identify genetic predispositions to autoimmune disorders.
GJC2 Gene Lymphedema Hereditary Type IC Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GJC2 gene associated with hereditary lymphedema. Helps diagnose genetic predisposition to this condition.
Myoz2 Gene Cardiomyopathy Familial Hypertrophic Type 16 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MYOZ2 gene associated with Familial Hypertrophic Cardiomyopathy (HCM). Helps assess genetic risk for individuals with a family history or symptoms.
SEMA3A Gene Kallmann Syndrome SEMA3A Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SEMA3A gene associated with Kallmann syndrome, a condition affecting puberty and sense of smell.
FBN1 Gene Acromicric Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FBN1 gene for mutations associated with Acromicric Dysplasia, a rare skeletal disorder. Helps in diagnosis and understanding genetic risks.
LZTR1 Gene Noonan Syndrome Type 10 Genetic Test
This genetic test identifies mutations in the LZTR1 gene associated with Noonan syndrome, a condition affecting multiple body systems. It uses Next-Generation Sequencing (NGS) technology for accurate diagnosis.
PALB2 Gene Pancreatic Cancer Type 3 Susceptibility to Genetic Test
Assess your genetic risk for pancreatic cancer with the PALB2 Gene Pancreatic Cancer Type 3 Susceptibility test using Next Generation Sequencing (NGS). Identify potential mutations in the PALB2 gene linked to increased susceptibility. Confirm with the laboratory before booking.
DNPH Urine Test
The DNPH Urine Test helps identify inborn errors of metabolism, crucial for early detection and management, especially in children. Results are typically available the same day.
NOS3 Gene Alzheimer Disease Type 1 Genetic Test
The NOS3 Gene Alzheimer Disease Type 1 NGS Genetic DNA Test assesses genetic predisposition to Alzheimer's disease by analyzing the NOS3 gene using Next Generation Sequencing (NGS) technology. Understanding your genetic risk can inform health decisions.
KCNB1 Gene Early Infantile Epileptic Encephalopathy Type 26 Genetic Test
Genetic test to identify mutations in the KCNB1 gene associated with early infantile epileptic encephalopathy type 26, aiding in the diagnosis of severe neurological disorders in infants.
XK Gene McLeod Syndrome With Or Without Chronic Granulomatous Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the XK gene for McLeod Syndrome and Chronic Granulomatous Disease. Helps diagnose neurological disorders and understand genetic predispositions.
HCRT Gene Narcolepsy Genetic Test
Genetic test to identify variations in the HCRT gene associated with narcolepsy, a neurological disorder causing excessive daytime sleepiness. Helps guide diagnosis and management.
Bean1 Gene Spinocerebellar Ataxia Type 31 Autosomal Dominant Genetic Test
Genetic test for mutations in the BEAN1 gene associated with Spinocerebellar Ataxia Type 31 (SCA31), a hereditary neurological disorder. Utilizes Next-Generation Sequencing (NGS) technology.
ABAT Gene GABAtransaminase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ABAT gene associated with GABA-transaminase deficiency, a metabolic disorder. Helps diagnose potential neurological complications.
ALAS2 Gene Protoporphyria Erythropoietic X-Linked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ALAS2 gene, aiding in the diagnosis of Erythropoietic Protoporphyria (EPP).
FASLG Gene Autoimmune Lymphoproliferative Syndrome Type 1B Genetic Test
Genetic test to identify mutations in the FASLG gene associated with Autoimmune Lymphoproliferative Syndrome Type 1B (ALPS1B).
CD27 Gene Lymphoproliferative Syndrome Type 2 Genetic Test
This genetic test identifies mutations in the CD27 gene associated with lymphoproliferative disorders. It uses Next Generation Sequencing (NGS) technology to analyze DNA and help understand potential risks related to immune system function. Confirm with the laboratory before booking.
TNNT2 Gene Cardiomyopathy Familial Hypertrophic Type 2 Genetic Test
Genetic test to identify mutations in the TNNT2 gene associated with Familial Hypertrophic Cardiomyopathy (HCM). Recommended for individuals with a family history of HCM or related symptoms.
PROK2 Gene Kallmann Syndrome Type 4 Genetic Test
Genetic test to identify mutations in the PROK2 gene associated with Kallmann syndrome, a condition affecting puberty and sense of smell. Uses Next-Generation Sequencing (NGS) technology.
NPR2 Gene Acromesomelic Dysplasia Maroteaux Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NPR2 gene associated with Acromesomelic Dysplasia Maroteaux Type. Aids in diagnosing skeletal dysplasia conditions.
SOS1 Gene Noonan Syndrome Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SOS1 gene associated with Noonan syndrome type 4. Helps diagnose the condition and guide management.
CDKN2A Gene Pancreatic Cancer/Melanoma Syndrome Familial Genetic Test
The CDKN2A Gene Pancreatic Cancer/Melanoma Syndrome Familial NGS Genetic DNA Test assesses genetic predisposition to pancreatic cancer and melanoma using next-generation sequencing (NGS) technology. Recommended for individuals with a family history of these cancers.
ADAM10 Gene Alzheimer Disease Type 18 Susceptibility to Genetic Test
This genetic test assesses your risk for Alzheimer's Disease Type 18 by analyzing variations in the ADAM10 gene. It uses Next Generation Sequencing (NGS) technology to provide insights into genetic predisposition, particularly relevant for those with a family history.
Wwox Gene Early Infantile Epileptic Encephalopathy Type 28 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the WWOX gene associated with early infantile epileptic encephalopathy. Helps diagnose specific neurological disorders in infants.
Hepacam Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A Genetic Test
Genetic test to identify mutations in the Hepacam gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A (MLC2A), a rare neurological disorder.
MTM1 Gene Myotubular Myopathy Xlinked Genetic Test
This genetic test identifies mutations in the MTM1 gene, which cause myotubular myopathy, a condition affecting muscle function. It uses Next Generation Sequencing (NGS) technology for accurate results.
TGM6 Gene Spinocerebellar Ataxia Type 35 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the TGM6 gene associated with Spinocerebellar Ataxia Type 35 (SCA35), a neurological disorder affecting coordination and balance. This test aids in diagnosis and family planning.
GALE Gene Galactose Epimerase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GALE gene, which is linked to galactose epimerase deficiency, a metabolic disorder. This test aids in diagnosing conditions related to galactose metabolism.
PNPO Gene Pyridoxamine 5-Phosphate Oxidase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PNPO gene associated with pyridoxamine 5'-phosphate oxidase deficiency, a rare metabolic disorder. Helps in early diagnosis and management.
CASP10 Gene Autoimmune Lymphoproliferative Syndrome Type 2A Genetic Test
Genetic test to detect mutations in the CASP10 gene associated with Autoimmune Lymphoproliferative Syndrome Type 2A (ALPS2A). Helps identify genetic predisposition to autoimmune disorders.
LPIN2 Gene Majeed Syndrome Genetic Test
This genetic test analyzes the LPIN2 gene to identify mutations associated with Majeed syndrome, a rare disorder affecting bones and skin. It uses Next-Generation Sequencing (NGS) technology.
CALR3 Gene Cardiomyopathy Familial Hypertrophic Type 19 Genetic Test
Genetic test to identify mutations in the CALR3 gene associated with Familial Hypertrophic Cardiomyopathy (HCM). Helps in understanding genetic risk for this heart condition.
GHR Gene Laron Syndrome Genetic Test
Genetic test for mutations in the GHR gene associated with Laron Syndrome and growth disorders. Helps diagnose growth deficiencies and guide treatment.
DLL4 Gene Adams-Oliver Syndrome Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the DLL4 gene associated with Adams-Oliver Syndrome Type 6. Helps diagnose genetic conditions in children.
KRAS Gene Noonan Syndrome Type 3 Genetic Test
A genetic test using Next Generation Sequencing (NGS) to detect mutations in the KRAS gene associated with Noonan syndrome type 3. Helps in diagnosing the condition for timely management.
SDHD Gene Paraganglioma and Gastric Stromal Sarcoma Genetic Test
Genetic test analyzing the SDHD gene to assess risk for paragangliomas and gastric stromal sarcomas. Useful for individuals with relevant family history or symptoms.
Hepatitis C Viral RNA HCV RNA Quantitative Real Time PCR Test
Detects and measures the amount of Hepatitis C virus (HCV) in the blood using Quantitative Real Time PCR. Essential for diagnosis, monitoring treatment, and assessing infection stage.
Cebpa Mutation Detection Test
The Cebpa Mutation Detection Test identifies mutations in the CEBPA gene, aiding in the diagnosis and treatment planning for certain types of leukemia. Confirm with the laboratory before booking.
Torch DNA Detection Test
The Torch DNA Detection Test identifies infections caused by Toxoplasma, Rubella, Cytomegalovirus, and Herpes Simplex. Essential for pregnant women and those with infection symptoms.
Psen1 Gene Alzheimer Disease Type 3 Genetic Test
This genetic test analyzes the PSEN1 gene to identify mutations associated with Alzheimer's disease type 3, helping assess genetic risk.
GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the GRIN2B gene for mutations associated with Early Infantile Epileptic Encephalopathy Type 27, aiding in the diagnosis of early-onset epilepsy.
Mttl1 Gene Melas Syndrome Mttl1 Related Genetic Test
Genetic test to identify mutations in the MTTL1 gene associated with MELAS syndrome, a neurological disorder. Recommended for individuals with relevant symptoms or family history.
TPM3 Gene Nemaline Myopathy Type 1 Genetic Test
The TPM3 Gene Nemaline Myopathy Type 1 Genetic Test identifies mutations in the TPM3 gene associated with nemaline myopathy, a rare neuromuscular disorder causing muscle weakness. This test uses Next Generation Sequencing (NGS) technology for accurate results.
Plekhg4 Gene Spinocerebellar Ataxia Type 4 Autosomal Dominant Genetic Test
Genetic test to detect mutations in the PLEKHG4 gene associated with Spinocerebellar Ataxia Type 4 (SCA4), a hereditary neurological disorder affecting balance and coordination.
GALT Gene Galactosemia Genetic Test
The GALT Gene Galactosemia NGS Genetic DNA Test identifies mutations in the GALT gene, crucial for diagnosing galactosemia, a metabolic disorder. Early detection helps manage health proactively.
HSD17B3 Gene Pseudohermaphroditism with Gynecomastia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HSD17B3 gene associated with pseudohermaphroditism and gynecomastia. Helps diagnose genetic conditions related to sexual development.
PRKCD Gene Autoimmune Lymphoproliferative Syndrome Type 3 Genetic Test
Genetic test analyzing the PRKCD gene to identify predispositions to Autoimmune Lymphoproliferative Syndrome Type 3, using Next Generation Sequencing (NGS).
SLURP1 Gene Mal de Meleda Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SLURP1 gene associated with Mal de Meleda, a rare skin disorder. Helps in early diagnosis and management for individuals with relevant symptoms or family history.
TPM1 Gene Cardiomyopathy Familial Hypertrophic Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the TPM1 gene for mutations associated with Familial Hypertrophic Cardiomyopathy (HCM). Helps identify predisposition to this heart condition.
SCNN1G Gene Liddle Syndrome Genetic Test
Genetic test to identify mutations in the SCNN1G gene, associated with Liddle syndrome, a cause of early-onset hypertension.
TP63 Gene Adult Syndrome Split Hand-Foot Malformation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TP63 gene, associated with conditions like split hand-foot malformation. Helps diagnose genetic conditions related to limb development.
NRAS Gene Noonan Syndrome Type 6 Genetic Test
Genetic test to identify mutations in the NRAS gene associated with Noonan Syndrome Type 6. Helps in diagnosis, management, and family planning.
SDHD Gene Paragangliomas Type 1 With or Without Deafness Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SDHD gene associated with paragangliomas and potential hearing loss.
H Influenza Viral Load Quantitative Test
The H Influenza Viral Load Quantitative Test measures the amount of Haemophilus influenzae bacteria in your system. This test helps diagnose and manage infections caused by this pathogen, guiding treatment decisions.
Psen2 Gene Alzheimer Disease Type 4 Genetic Test
Genetic test to identify mutations in the PSEN2 gene associated with Alzheimer's disease type 4 risk. Recommended for individuals with a family history of neurological disorders or early cognitive decline symptoms.
AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test
Genetic test to identify mutations in the AARS1 gene associated with early infantile epileptic encephalopathy, a severe neurological disorder in infants.
FLNA Gene Melnick-Needles Syndrome Genetic Test
Genetic test to identify mutations in the FLNA gene associated with Melnick-Needles syndrome, a rare disorder affecting brain and skeletal development.
NEB Gene Nemaline Myopathy Type 2 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the NEB gene associated with Nemaline Myopathy Type 2, a rare neuromuscular disorder. It aids in diagnosis, management, and family planning.
NOP56 Gene Spinocerebellar Ataxia Type 36 Autosomal Dominant Genetic Test
Genetic test to detect mutations in the NOP56 gene associated with Spinocerebellar Ataxia Type 36 (SCA36), a hereditary neurological disorder. Helps identify genetic risks for this condition.
ABCB4 Gene Gallbladder Disease Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ABCB4 gene for variations associated with Gallbladder Disease Type 1. Helps identify genetic risks related to gallbladder function and metabolism.
PDHA1 Gene Pyruvate Dehydrogenase E1alpha Deficiency Genetic Test
Genetic test to identify mutations in the PDHA1 gene, associated with Pyruvate Dehydrogenase E1alpha Deficiency, a metabolic disorder. Helps diagnose and guide management.
CASP8 Gene Autoimmune Lymphoproliferative Syndrome Type 2B Genetic Test
Genetic test to identify mutations in the CASP8 gene associated with Autoimmune Lymphoproliferative Syndrome (ALPS) Type 2B, using Next-Generation Sequencing (NGS).
MR1 Gene Major Histocompatibility Complex 1 Deficiency Genetic Test
This genetic test identifies deficiencies in the MR1 gene using Next Generation Sequencing (NGS). It helps diagnose genetic disorders related to immune response, osteology, dermatology, and immunology. Confirm with the laboratory before booking.
PRKAG2 Gene Cardiomyopathy Familial Hypertrophic Type 6 Genetic Test
Genetic test to identify mutations in the PRKAG2 gene associated with Familial Hypertrophic Cardiomyopathy (FHC). Helps assess risk for individuals with a family history of heart conditions.
SCNN1B Gene Liddle Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SCNN1B gene associated with Liddle syndrome, a condition affecting kidney function and blood pressure. Helps assess risk for hypertension and electrolyte imbalances.
GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome Genetic Test
Genetic test analyzing the GMPPA gene to help diagnose conditions associated with alacrima, achalasia, and mental retardation. Utilizes Next Generation Sequencing (NGS) technology.
RAF1 Gene Noonan Syndrome Type 5 Genetic Test
Genetic test to identify mutations in the RAF1 gene associated with Noonan syndrome type 5, using Next-Generation Sequencing (NGS) technology.
SDHB Gene Paragangliomas Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SDHB gene, which can increase the risk of developing paragangliomas. Helps assess hereditary risk.
Hepatitis E Virus HEV Qualitative PCR Test
Detects the presence of the Hepatitis E virus (HEV) in the blood using Real Time PCR technology. This test is crucial for diagnosing active HEV infection, especially when symptoms are present or exposure is suspected.
DRPLA Dentatorubralpallidoluysian Atrophy Gene Analysis Test
Genetic test for Dentatorubralpallidoluysian Atrophy (DRPLA), analyzing the ATN1 gene for CAG repeat expansions. Helps diagnose this progressive neurologic disorder.
SORL1 Gene Alzheimer's Disease Early Onset Autosomal Dominant Genetic Test
Genetic test for mutations in the SORL1 gene associated with early onset Alzheimer's disease, using Next Generation Sequencing (NGS).
SLC25A22 Gene Early Infantile Epileptic Encephalopathy Type 3 Genetic Test
Genetic test to identify mutations in the SLC25A22 gene associated with early infantile epileptic encephalopathy type 3, aiding in diagnosis and management.
CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Genetic Test
This genetic test identifies mutations in the CASK gene associated with neurological conditions like mental retardation and microcephaly using Next Generation Sequencing (NGS).
ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test
Genetic test to identify mutations in the ACTA1 gene associated with Nemaline Myopathy Type 3, a condition causing muscle weakness.
SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test
Genetic test for Spinocerebellar Ataxia Type 5 (SCA5), caused by mutations in the SPTBN2 gene. Helps diagnose hereditary neurological disorders.
CTSA Gene Galactosialidosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CTSA gene associated with Galactosialidosis, a rare metabolic disorder. Helps in diagnosis and family planning.
DLAT Gene Pyruvate Dehydrogenase E2 Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DLAT gene associated with Pyruvate Dehydrogenase E2 Deficiency, a metabolic disorder. Helps in diagnosis and understanding genetic risks.
PSMB8 Gene Autoinflammation Lipodystrophy and Dermatosis Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PSMB8 gene, identifying mutations linked to autoinflammatory syndromes, lipodystrophy, and dermatosis. Helps in diagnosis and personalized treatment.
ICAM1 Gene Malaria Cerebral Susceptibility to Genetic Test
Genetic test to assess susceptibility to severe malaria, particularly cerebral malaria, by analysing the ICAM1 gene. Helps understand individual risk.
Mybpc3 Gene Cardiomyopathy Familial Hypertrophic Type 4 Genetic Test
Genetic test to identify mutations in the MYBPC3 gene associated with familial hypertrophic cardiomyopathy (HCM), a condition causing heart muscle thickening.
Star Gene Lipoid Congenital Adrenal Hyperplasia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the STAR gene associated with Lipoid Congenital Adrenal Hyperplasia (CAH), a condition affecting adrenal hormone production.
JAG1 Gene Alagille Syndrome Type 1 Genetic Test
Genetic test using NGS technology to identify mutations in the JAG1 gene associated with Alagille syndrome, a disorder affecting multiple organs. Helps in diagnosis and management.
BRAF Gene Noonan Syndrome Type 7 Genetic Test
This genetic test identifies mutations in the BRAF gene associated with Noonan syndrome type 7, aiding in diagnosis, treatment planning, and family risk assessment.
SDHA Gene Paragangliomas Type 5 Genetic Test
The SDHA Gene Paragangliomas Type 5 NGS Genetic DNA Test identifies mutations in the SDHA gene linked to paragangliomas. This test helps assess genetic risk for early detection and management.
Helicobacter Pylori RNA Detection Qualitative Test
Detect the presence of Helicobacter Pylori bacteria, a common cause of stomach ulcers and gastritis, using our advanced RNA detection test. This qualitative test uses Real Time PCR for accurate results.
Duchenne Becker Muscular Dystrophy DMD BMD Gene Mutation Test
This genetic test identifies mutations in the dystrophin gene associated with Duchenne and Becker muscular dystrophies, aiding in early diagnosis and management.
ST3GAL5 Gene Amish Infantile Epilepsy Syndrome Genetic Test
Genetic test to identify mutations in the ST3GAL5 gene associated with Amish Infantile Epilepsy Syndrome, a rare neurological disorder in infants.
SIK1 Gene Early Infantile Epileptic Encephalopathy Type 30 Genetic Test
Genetic test to identify mutations in the SIK1 gene associated with early infantile epileptic encephalopathy type 30, a severe neurological disorder in infants.
ELK1 Gene Mental Retardation Nonsyndromic Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ELK1 gene associated with nonsyndromic mental retardation. Helps understand the genetic basis of neurological disorders.
TPM2 Gene Nemaline Myopathy Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TPM2 gene associated with Nemaline myopathy, a rare muscle disorder. Aids in diagnosing unexplained muscle weakness.
CACNA1A Gene Spinocerebellar Ataxia Type 6 Autosomal Dominant Genetic Test
Genetic test for mutations in the CACNA1A gene associated with Spinocerebellar Ataxia Type 6 (SCA6), a hereditary neurological disorder affecting coordination and balance. Utilizes Next Generation Sequencing (NGS) technology.
GBA Gene Gaucher Disease Type 2 Genetic Test
The GBA Gene Gaucher Disease Type 2 NGS Genetic DNA Test identifies mutations in the GBA gene associated with Gaucher disease type 2, a serious metabolic disorder. Early detection aids in management and treatment.
PDHB Gene Pyruvate Dehydrogenase E1beta Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PDHB gene, associated with Pyruvate Dehydrogenase E1beta deficiency, a metabolic disorder. Confirm with the laboratory before booking.
AIRE Gene Autoimmune Polyendocrinopathy Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the AIRE gene, identifying potential risks for Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1).
FCGR2B Gene Malaria Resistance to Genetic Test
Understand your genetic predisposition to malaria resistance with the FCGR2B Gene Malaria Resistance Test. This genetic evaluation uses Next-Generation Sequencing (NGS) to analyze variations in the FCGR2B gene, providing insights for individuals in malaria-endemic areas or with a family history.
TNNI3 Gene Cardiomyopathy Familial Hypertrophic Type 7 Genetic Test
Genetic test to identify mutations in the TNNI3 gene associated with Familial Hypertrophic Cardiomyopathy (HCM), a condition affecting the heart muscle. Uses Next-Generation Sequencing (NGS) technology.
TRMU Gene Liver Failure Transient Infantile Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TRMU gene associated with transient infantile liver failure. Helps guide diagnosis and management in infants with liver dysfunction symptoms.
Notch2 Gene Alagille Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the Notch2 gene associated with Alagille syndrome type 2. Helps diagnose and manage this condition.
RIT1 Gene Noonan Syndrome Type 8 Genetic Test
Genetic test analyzing the RIT1 gene to identify mutations associated with Noonan syndrome type 8, aiding in diagnosis and management.
PDGFRA Gene PDGFRA Selective Sequencing of Exons 12 14 and 18 Genetic Test
This genetic test identifies specific mutations in the PDGFRA gene (exons 12, 14, and 18) associated with certain cancers, using Next Generation Sequencing (NGS) technology. Results can help guide personalized treatment options.
Her2 Neu DNA Detection Quantification RNA Detection Qualitative Test
The Her2 Neu DNA Detection Quantification RNA Detection Qualitative Test assesses the Her2 gene status in cancer cells, guiding treatment decisions for certain cancers, particularly breast cancer. Confirm with the laboratory before booking.
Human Immuno Virus 1 Genotyping Drug Resistance Test
This test identifies mutations in the HIV-1 virus that may cause resistance to antiretroviral medications, helping guide effective treatment.
RTN3 Gene Alzheimer's Disease RTN3 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to assess variations in the RTN3 gene associated with Alzheimer's disease risk.
KCNA2 Gene Early Infantile Epileptic Encephalopathy Type 32 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the KCNA2 gene associated with Early Infantile Epileptic Encephalopathy Type 32, a severe neurological disorder in infants.
KLF8 Gene Mental Retardation Nonsyndromic Genetic Test
This genetic test analyzes the KLF8 gene to help identify potential causes of nonsyndromic mental retardation. It uses Next-Generation Sequencing (NGS) technology.
TNNT1 Gene Nemaline Myopathy Type 5 Genetic Test
Genetic test to identify mutations in the TNNT1 gene, associated with Nemaline Myopathy Type 5, a rare neuromuscular disorder. Helps in diagnosis, management, and family planning.
ATXN7 Gene Spinocerebellar Ataxia Type 7 Autosomal Dominant Genetic Test
Genetic test for Spinocerebellar Ataxia Type 7 (SCA7), an inherited neurological disorder. Uses Next Generation Sequencing (NGS) to detect mutations in the ATXN7 gene.
GBA Gene Gaucher Disease Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GBA gene associated with Gaucher disease type 1. Helps in early diagnosis and management.
Lias Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the LIAS gene, associated with lipoic acid synthetase deficiency and metabolic disorders. Helps in early detection and informed health decisions.
COL2A1 Gene Avascular Necrosis of the Femoral Head Primary Genetic Test
This genetic test analyzes the COL2A1 gene to identify mutations associated with an increased risk of avascular necrosis (AVN) of the femoral head, a condition affecting the hip joint. Confirm with the laboratory before booking.
ZMPSTE24 Gene Mandibuloacral Dysplasia with Type B Lipodystrophy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ZMPSTE24 gene. Helps diagnose conditions like mandibuloacral dysplasia and type B lipodystrophy, aiding in understanding genetic predispositions and family planning.
Myl3 Gene Cardiomyopathy Familial Hypertrophic Type 8 Genetic Test
Genetic test to identify mutations in the MYL3 gene associated with familial hypertrophic cardiomyopathy (HCM), a condition affecting the heart muscle. Helps assess risk and guide management.
ApoE Gene Lipoprotein Glomerulopathy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the APOE gene associated with lipoprotein glomerulopathy and related conditions affecting kidney, liver, and metabolic health.
LARP7 Gene Alazami Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LARP7 gene associated with Alazami syndrome. Helps diagnose and manage this rare genetic disorder.
CBL Gene Noonan Syndromelike Disorder with or without Juvenile Meylomonocytic Leukemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CBL gene associated with Noonan syndrome-like disorders and juvenile myelomonocytic leukemia. Recommended for individuals with symptoms or family history.
STK11 Gene PeutzJeghers Syndrome Genetic Test
Genetic test to identify mutations in the STK11 gene associated with Peutz-Jeghers syndrome, a condition increasing the risk of certain cancers. Helps in early risk assessment and management.
Lysosomal Storage Disorder Gene Panel
A genetic test to identify mutations associated with various lysosomal storage disorders, aiding in early diagnosis and management.
HLA B8 B08 Test
The HLA B8 B08 Test identifies specific human leukocyte antigen (HLA) markers in your blood. This genetic test can help understand potential predispositions to certain autoimmune conditions. Confirm with the laboratory before booking.
Phospholipid Syndrome Panel Test
The Phospholipid Syndrome Panel Test helps identify antibodies linked to autoimmune disorders, blood clots, and recurrent pregnancy loss. Confirm with the laboratory before booking.
Gsn Gene Amyloidosis Finnish Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GSN gene associated with Finnish-type amyloidosis, a rare neurological disorder. Confirm with the laboratory before booking.
Dnm1 Gene Early Infantile Epileptic Encephalopathy Type 31 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DNM1 gene associated with Early Infantile Epileptic Encephalopathy Type 31. Recommended for infants with relevant symptoms.
Nxf5 Gene Mental Retardation Nonsyndromic Genetic Test
This genetic test identifies mutations in the Nxf5 gene associated with nonsyndromic mental retardation using Next Generation Sequencing (NGS) technology. It helps diagnose the genetic basis of cognitive impairments.
KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KBTBD13 gene for mutations associated with Nemaline myopathy, a rare neuromuscular disorder. Helps in diagnosis and understanding genetic risk.
ATXN8OS Gene Spinocerebellar Ataxia Type 8 Autosomal Dominant Genetic Test
Genetic test for mutations in the ATXN8OS gene associated with Spinocerebellar Ataxia Type 8 (SCA8), a progressive neurological disorder affecting coordination and balance.
GBA Gene Gaucher Disease Type 3 Genetic Test
This genetic test identifies mutations in the GBA gene associated with Gaucher disease type 3, a metabolic disorder. It uses Next Generation Sequencing (NGS) technology to analyze DNA. Recommended for individuals with symptoms like enlarged spleen or liver, or a family history of the disease.
PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PDP1 gene associated with pyruvate dehydrogenase phosphatase deficiency, a metabolic disorder. Helps guide diagnosis and management.
Card11 Gene B-Cell Expansion with Nfkb and T-Cell Anergy Genetic Test
Genetic test analyzing the CARD11 gene to understand its role in immune function, particularly B-cell expansion and T-cell anergy. Useful for individuals with a family history of immunological disorders or symptoms of immune dysfunction.
TGFBR1 Gene Marfan Syndrome TGFBR1 Related Genetic Test
This genetic test identifies mutations in the TGFBR1 gene, which are linked to Marfan syndrome, a disorder affecting connective tissues. It helps assess genetic risk for individuals with symptoms or a family history.
TTN Gene Cardiomyopathy Familial Hypertrophic Type 9 Genetic Test
Genetic test to identify mutations in the TTN gene associated with Familial Hypertrophic Cardiomyopathy (HCM), a condition causing heart muscle thickening.
MKS1 Gene Meckel Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the MKS1 gene for mutations associated with Meckel Syndrome Type 1. Helps diagnose the condition and assess risk.
TP63 Gene Ankyloblepharon-Ectodermal Defects Cleft Lip/Palate Genetic Test
Genetic test to identify mutations in the TP63 gene associated with ankyloblepharon-ectodermal defects, cleft lip, and palate. Helps in early diagnosis and management.
NAA10 Gene Ogden Syndrome Genetic Test
The NAA10 Gene Ogden Syndrome NGS Genetic DNA Test identifies mutations in the NAA10 gene associated with Ogden syndrome, aiding in diagnosis and management.
SDHD Gene Pheochromocytoma Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SDHD gene for mutations associated with hereditary pheochromocytoma. Helps identify individuals at risk.
Maternal Cell Contamination
Detects maternal cells in fetal samples (amniotic fluid or chorionic villi) to ensure accurate prenatal genetic testing results. Essential for informed pregnancy management.
Hepatitis A Virus RNA Detection PCR Test
Detects the Hepatitis A virus RNA in blood using PCR for early diagnosis of acute Hepatitis A infection. Important for individuals with liver symptoms or exposure risk.
TTR Gene Amyloidosis Genetic Test
The TTR Gene Amyloidosis NGS Genetic DNA Test identifies mutations in the transthyretin (TTR) gene associated with hereditary amyloidosis, a condition potentially leading to neurological disorders. This test uses Next Generation Sequencing (NGS) technology.
Eef1a2 Gene Early Infantile Epileptic Encephalopathy Type 33 Genetic Test
Genetic test to identify mutations in the EEF1A2 gene associated with Early Infantile Epileptic Encephalopathy Type 33 (EIEE33), a severe neurological disorder in infants.
ZCCHC12 Gene Mental Retardation Nonsyndromic Genetic Test
This genetic test identifies mutations in the ZCCHC12 gene, which can be associated with nonsyndromic mental retardation (intellectual disability). It uses advanced sequencing technology to analyze DNA.
MTTV Gene Neonatal Death Due Leigh Syndrome MTTV Related Genetic Test
Genetic test to identify mutations in the MTTV gene associated with Leigh syndrome, a severe neurological disorder in newborns. Helps with early diagnosis and management.
TPP1 Gene Spinocerebellar Ataxia Type 7 Autosomal Recessive Genetic Test
Genetic test for mutations in the TPP1 gene associated with Spinocerebellar Ataxia Type 7 (SCA7), a hereditary neurological disorder. Utilizes Next-Generation Sequencing (NGS) technology.
PSAP Gene Gaucher Disease Atypical Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PSAP gene associated with Gaucher disease, a metabolic disorder. Suitable for individuals with family history or symptoms.
PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia Genetic Test
Genetic test to identify mutations in the PKLR gene associated with pyruvate kinase deficiency, a cause of hemolytic anemia. Helps diagnose and manage this metabolic disorder.
RFXANK Gene Bare Lymphocyte Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the RFXANK gene associated with Bare Lymphocyte Syndrome (BLS) type 2, an immune system disorder. Helps assess risk and inform management.
TGFBR2 Gene Marfan Syndrome TGFBR2 Related Genetic Test
Genetic test to identify mutations in the TGFBR2 gene associated with Marfan syndrome, aiding in diagnosis, management, and family planning.
TNNI3 Gene Cardiomyopathy Familial Restrictive Type 1 Genetic Test
Genetic test for mutations in the TNNI3 gene associated with Familial Restrictive Cardiomyopathy Type 1. Helps identify genetic risk for heart conditions.
SLC7A7 Gene Lysinuric Protein Intolerance Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SLC7A7 gene, aiding in the diagnosis of Lysinuric Protein Intolerance (LPI), a rare metabolic disorder. Confirm with the laboratory before booking.
FGFR2 Gene Antley-Bixler Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FGFR2 gene associated with Antley-Bixler syndrome. Helps in diagnosing and managing this condition.
GJA1 Gene Oculodentodigital Dysplasia Genetic Test
Genetic test to identify mutations in the GJA1 gene associated with oculodentodigital dysplasia (ODDD), a condition affecting eyes, teeth, and fingers.
SDHB Gene Pheochromocytoma Type 2 Genetic Test
Genetic test to identify mutations in the SDHB gene associated with an increased risk of pheochromocytoma and related tumors. Important for individuals with a family history of these conditions.
Maturity-Onset Diabetes of the Young MODY Gene Panel
The Maturity-Onset Diabetes of the Young (MODY) Gene Panel test identifies genetic mutations linked to MODY, a specific type of diabetes often diagnosed in younger individuals. This genetic test can help guide personalized management and treatment.
Chikungunya Virus PCR Qualitative Test
Detects the Chikungunya virus genetic material to confirm an active infection. Essential for diagnosing Chikungunya, especially in individuals with relevant symptoms or travel history.
EGFR Mutational Analysis Test
The EGFR Mutational Analysis Test identifies mutations in the EGFR gene, common in non-small cell lung cancer, to guide personalized treatment decisions.
CHGB Gene Amyotrophic Lateral Sclerosis Risk Factor Genetic Test
This genetic test analyzes the CHGB gene to assess potential risk factors for Amyotrophic Lateral Sclerosis (ALS), a progressive neurological disorder. It uses Next-Generation Sequencing (NGS) technology.
STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the STXBP1 gene associated with early infantile epileptic encephalopathy type 4, aiding in diagnosis and management.
WDR81 Gene Mental Retardation with Cerebellar Ataxia and Dysequilibrium Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the WDR81 gene associated with mental retardation, cerebellar ataxia, and dysequilibrium syndrome. Utilizes Next-Generation Sequencing (NGS) technology.
CFL2 Gene Nemaline Myopathy Type 7 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CFL2 gene, associated with nemaline myopathy, a rare neuromuscular disorder. Helps in early diagnosis and management.
Syne1 Gene Spinocerebellar Ataxia Type 8 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the SYNE1 gene associated with Spinocerebellar Ataxia Type 8 (SCA8), a neurological disorder affecting coordination and balance.
GBA Gene Gaucher Disease Type 3C Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GBA gene associated with Gaucher disease type 3C, a metabolic disorder. Helps in diagnosis and management.
PEX7 Gene Refsum Disease Genetic Test
Genetic test for Refsum disease, a rare metabolic disorder caused by mutations in the PEX7 gene. Uses Next-Generation Sequencing (NGS) technology.
FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the FGFR2 gene associated with Beare-Stevenson cutis gyrata syndrome. Helps in diagnosis and management.
GUCY2C Gene Meconium Ileus Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the GUCY2C gene, identifying potential predispositions related to meconium ileus. Genetic counseling is recommended before testing.
MYLK2 Gene Cardiomyopathy Hypertrophic Midventricular Digenic Genetic Test
This genetic test analyzes the MYLK2 gene to identify mutations associated with hypertrophic cardiomyopathy, a condition affecting the heart muscle. It helps assess genetic risk for individuals with a family history or symptoms of heart conditions.
TMEM67 Gene Meckel Syndrome Type 3 Genetic Test
Genetic test to identify mutations in the TMEM67 gene associated with Meckel syndrome type 3. Helps in diagnosis and family planning.
FGFR2 Gene Apert Syndrome Genetic Test
This genetic test identifies mutations in the FGFR2 gene associated with Apert syndrome, a condition affecting bone development. It uses Next Generation Sequencing (NGS) technology.
MED12 Gene Opitz-Kaveggia Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MED12 gene associated with Opitz-Kaveggia syndrome. Helps in diagnosing this rare genetic disorder.
SDHC Gene Pheochromocytoma Type 3 Genetic Test
This genetic test identifies mutations in the SDHC gene, which are linked to an increased risk of developing pheochromocytoma, a rare adrenal gland tumor. Early detection helps in managing health risks.
Human Herpesvirus 6 HHV6 Qualitative PCR Test
Detects the presence of Human Herpesvirus 6 (HHV-6) using PCR technology. This test helps diagnose HHV-6 infections, especially in individuals with weakened immune systems.
ACTN3 Sports Gene Genotyping Test
Understand your genetic potential for athletic performance with the ACTN3 Sports Gene Genotyping Test. This test analyzes variations in the ACTN3 gene linked to muscle function and power.
Chimerism Preengraftment Test
Monitor transplant success with the Chimerism Preengraftment Test. This test assesses the proportion of donor cells in your blood after a transplant, helping detect potential issues early.
TARDBP Gene Amyotrophic Lateral Sclerosis Type 10 Genetic Test
The TARDBP Gene Amyotrophic Lateral Sclerosis Type 10 Genetic Test uses Next-Generation Sequencing (NGS) to identify mutations in the TARDBP gene associated with ALS. This test can help individuals with a family history or symptoms suggestive of ALS.
GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 Genetic Test
Genetic test to identify mutations in the GUF1 gene associated with early infantile epileptic encephalopathy, a severe neurological disorder in infants. Utilizes Next-Generation Sequencing (NGS) technology.
ATRX Gene Mental Retardation with Hypotonic Facies Syndrome X-Linked Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ATRX gene, associated with X-linked mental retardation and hypotonic facies syndrome. Recommended for individuals with relevant symptoms or family history.
FOLR1 Gene Neurodegeneration Due to Cerebral Folate Transport Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FOLR1 gene associated with cerebral folate transport deficiency, a cause of neurodegeneration. Helps diagnose neurological disorders related to folate transport.
COQ8A Gene Spinocerebellar Ataxia Type 9 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the COQ8A gene associated with Spinocerebellar Ataxia Type 9 (SCA9), a progressive neurological disorder affecting balance and coordination.
MC2R Gene Glucocorticoid Deficiency Type 1 Genetic Test
Genetic test to identify mutations in the MC2R gene associated with Glucocorticoid Deficiency Type 1, a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
PhyH Gene Refsum Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PHYH gene associated with Refsum disease, a rare metabolic disorder. Helps understand genetic predisposition and guide management.
CIITA Gene Bare Lymphocyte Syndrome Type 2 Complementation Group A Genetic Test
Genetic test for Bare Lymphocyte Syndrome Type 2 (BLS), a rare immune disorder. Uses Next Generation Sequencing (NGS) to analyze the CIITA gene. Helps identify genetic predispositions for early diagnosis and management.
MKKS Gene McKusick-Kaufman Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MKKS gene associated with McKusick-Kaufman Syndrome. Helps in diagnosing and managing this genetic condition.
MTATP8 Gene Cardiomyopathy Infantile Hypertrophic MTATP8 Related Genetic Test
Genetic test to identify mutations in the MTATP8 gene associated with infantile hypertrophic cardiomyopathy. Early detection helps guide management.
B9D2 Gene Meckel Syndrome Type 10 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the B9D2 gene associated with Meckel syndrome. Aids in early diagnosis and management.
HOXA1 Gene Athabaskan Brainstem Dysgenesis Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HOXA1 gene associated with Athabaskan Brainstem Dysgenesis Syndrome. Helps in diagnosing and managing this condition.
BMP4 Gene Orofacial Cleft Type 11 Genetic Test
Genetic test analyzing the BMP4 gene to identify mutations associated with orofacial clefts. Helps understand risks and inform family planning.
SDHAF2 Gene Pheochromocytoma Type 5 Genetic Test
The SDHAF2 Gene Pheochromocytoma Type 5 NGS Genetic DNA Test assesses genetic risk for pheochromocytoma, a rare adrenal gland tumor. Using Next Generation Sequencing (NGS), this test analyzes the SDHAF2 gene for mutations associated with the condition. Recommended for individuals with a family history or symptoms suggestive of pheochromocytoma.
MDS Panel Cytogenetics FISH del(5q) del(7q) del(20q)
The MDS Panel Cytogenetics FISH test detects specific chromosomal deletions (del(5q), del(7q), del(20q)) associated with Myelodysplastic Syndromes (MDS), aiding in diagnosis and treatment planning.
hTERT RNA Detection Qualitative Test
This test detects the presence of hTERT RNA in samples like bone marrow and pancreatic tissue. It aids in the early diagnosis of certain viral diseases. Confirm with the laboratory before booking.
Chimerism Postengraftment Test
Monitor the success of your stem cell or bone marrow transplant with the Chimerism Postengraftment Test. This test assesses the proportion of donor and recipient cells to guide treatment.
Toxoplasma DNA Detection Test
Detects the DNA of the Toxoplasma gondii parasite using PCR. This test is important for diagnosing toxoplasmosis, especially in pregnant women and those with weakened immune systems.
SOD1 Gene Amyotrophic Lateral Sclerosis Type 1 Genetic Test
The SOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic DNA Test identifies genetic mutations linked to ALS, a progressive neurological disorder. This test uses Next Generation Sequencing (NGS) technology to analyze the SOD1 gene, aiding in diagnosis and personalized management for individuals with suspected or familial ALS.
GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GRIN2D gene, associated with early infantile epileptic encephalopathy. Aids in diagnosing rare neurological disorders in infants.
FOXP1 Gene Mental Retardation with Language Impairment and Autistic Features Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FOXP1 gene, associated with developmental delays, language impairment, and autistic features. Confirm with the laboratory before booking.
WDR45 Gene Neurodegeneration with Brain Iron Accumulation Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the WDR45 gene, associated with a rare neurodegenerative disorder involving brain iron accumulation. Recommended for individuals with relevant family history or symptoms.
TDP1 Gene Spinocerebellar Ataxia with Axonal Neuropathy Autosomal Recessive Genetic Test
Genetic test to identify mutations in the TDP1 gene associated with Spinocerebellar Ataxia with Axonal Neuropathy. Helps diagnose neurological disorders and guide management.
GBA Gene Gaucher Disease Perinatal Lethal Genetic Test
This genetic test identifies mutations in the GBA gene linked to Gaucher disease, a metabolic disorder. It is recommended for individuals with a family history of the condition to aid in early diagnosis and management.
SLC52A1 Gene Riboflavin Deficiency Genetic Test
Genetic test to identify mutations in the SLC52A1 gene, associated with riboflavin deficiency and related metabolic disorders. Uses Next-Generation Sequencing (NGS) technology.
FGFR2 Gene Bent Bone Dysplasia Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the FGFR2 gene associated with Bent Bone Dysplasia Syndrome and related skeletal disorders. Helps in diagnosis and management.
AP1S1 Gene MEDNIK Syndrome Genetic Test
This genetic test identifies mutations in the AP1S1 gene associated with MEDNIK syndrome using Next Generation Sequencing (NGS) technology. It helps in the diagnosis and management of this rare genetic disorder.
MTTH Gene Cardiomyopathy Idiopathic Dilated Mitochondrial MTTH Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MTTH gene associated with idiopathic dilated cardiomyopathy. Helps understand genetic predisposition to certain heart conditions.
CEP290 Gene Meckel Syndrome Type 4 Genetic Test
This genetic test analyzes the CEP290 gene to identify mutations associated with Meckel syndrome type 4, a rare genetic disorder. It aids in diagnosis, management, and family planning.
NKX25 Gene Atrial Septal Defect with Atrioventricular Conduction Defects Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NKX25 gene associated with Atrial Septal Defects and Atrioventricular Conduction Defects. Helps understand genetic risk for heart conditions.
SUMO1 Gene Orofacial Cleft Type 10 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SUMO1 gene associated with Orofacial Cleft Type 10. Aids in early diagnosis and management of dysmorphology conditions, especially for families with a history of orofacial clefts.
TMEM127 Gene Pheochromocytoma Type 8 Genetic Test
Genetic test to identify mutations in the TMEM127 gene, associated with an increased risk of developing pheochromocytoma, a rare adrenal gland tumor.
Chimerism Preengraftment Donor Recipient Test
This test monitors the success of organ transplants by assessing the presence of donor cells in the recipient's blood, aiding in early detection of complications.
Pik3ca Mutation Analysis Test
The PIK3CA Mutation Analysis Test identifies specific genetic changes in the PIK3CA gene, which can help guide cancer treatment decisions for certain types of cancer. Confirm with the laboratory before booking.
FIG4 Gene Amyotrophic Lateral Sclerosis Type 11 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FIG4 gene associated with Amyotrophic Lateral Sclerosis (ALS). Helps understand genetic risk for individuals with a family history or symptoms.
GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the GABRB1 gene for mutations associated with Early Infantile Epileptic Encephalopathy Type 45 (EIEE), a severe neurological disorder in infants.
SMARCA1 Gene Mental Retardation X-Linked SMARCA1 Related Genetic Test
This genetic test identifies mutations in the SMARCA1 gene, associated with X-linked mental retardation and other neurological disorders. It uses Next Generation Sequencing (NGS) technology.
C19orf12 Gene Neurodegeneration with Brain Iron Accumulation Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the C19orf12 gene, associated with Neurodegeneration with Brain Iron Accumulation Type 4 (NBIA-4).
TWNK Gene Spinocerebellar Ataxia Infantile-Onset Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the TWNK gene for mutations associated with infantile-onset spinocerebellar ataxia. Helps identify genetic risks for neurological disorders.
MRAP Gene Glucocorticoid Deficiency Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MRAP gene associated with Glucocorticoid Deficiency Type 2, a metabolic disorder. Helps guide diagnosis and treatment.
RPIA Gene Ribose 5-Phosphate Isomerase Deficiency Genetic Test
Genetic test to identify mutations in the RPIA gene associated with ribose 5-phosphate isomerase deficiency, a rare metabolic disorder. Helps in early diagnosis and management.
PLS3 Gene Bone Mineral Density QTL18 Osteoporosis Genetic Test
This genetic test assesses your risk for osteoporosis by analyzing variations in the PLS3 gene, which is linked to bone mineral density. It can help identify individuals at higher risk, enabling proactive management.
COL10A1 Gene Metaphyseal Chondrodysplasia Schmid Type Genetic Test
Genetic test to identify mutations in the COL10A1 gene associated with Metaphyseal Chondrodysplasia, Schmid type, a rare bone development disorder. Uses Next-Generation Sequencing (NGS) technology.
MYH7B Gene Cardiomyopathy Left Ventricular Noncompaction MYH7B Related Genetic Test
This genetic test analyzes the MYH7B gene to identify mutations linked to cardiomyopathy, particularly left ventricular noncompaction. It uses Next Generation Sequencing (NGS) technology to assess genetic risk for individuals with a family history or symptoms of heart conditions.
B9D1 Gene Meckel Syndrome Type 9 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the B9D1 gene for mutations associated with Meckel syndrome type 9. Aids in diagnosis and management.
GATA4 Gene Atrial Septal Defect Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the GATA4 gene for variations associated with Atrial Septal Defect Type 2. Helps identify genetic risk for this congenital heart condition.
MSX1 Gene Orofacial Cleft Type 5 Genetic Test
Genetic test to identify mutations in the MSX1 gene associated with orofacial clefts. Provides insights into genetic risks for families with a history of these conditions.
MAX Gene Pheochromocytoma Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MAX gene associated with an increased risk of pheochromocytoma. Helps assess risk for individuals with a family history or symptoms.
MECP2 Full Gene Mutation Analysis RETT Syndrome
Genetic test to identify mutations in the MECP2 gene, associated with RETT Syndrome. Helps in diagnosis and management.
Influenza A Viral Load Quantitative Test
The Influenza A Viral Load Quantitative Test detects and measures the amount of Influenza A virus in your system using Real Time PCR. This test helps diagnose infections, assess severity, and monitor treatment effectiveness.
OPTN Gene Amyotrophic Lateral Sclerosis Type 12 Genetic Test
Genetic test to identify mutations in the OPTN gene associated with Amyotrophic Lateral Sclerosis (ALS). Helps understand risk and inform management.
FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 Genetic Test
This genetic test identifies mutations in the FGF12 gene, which are associated with early infantile epileptic encephalopathy. It uses Next-Generation Sequencing (NGS) technology to analyze DNA samples from infants showing signs of early-onset epilepsy.
KDM5C Gene Mental Retardation X-Linked Syndromic Claes-Jensen Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the KDM5C gene associated with X-linked syndromic mental retardation (Claes-Jensen type).
COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the COASY gene, aiding in the diagnosis of Neurodegeneration with Brain Iron Accumulation Type 6 (NBIA-6).
Shroom4 Gene Stocco Dos Santos X-linked Mental Retardation Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SHROOM4 gene associated with X-linked mental retardation syndrome. Helps assess risk and inform management.
SLC5A1 Gene Glucose Galactose Malabsorption Genetic Test
Genetic test to identify mutations in the SLC5A1 gene, responsible for glucose-galactose malabsorption (GGM), a rare metabolic disorder affecting nutrient absorption.
CYP2R1 Gene Rickets Vitamin D 25-Hydroxylation-Deficient Type 1B Genetic Test
This genetic test identifies mutations in the CYP2R1 gene, which can cause vitamin D metabolism problems leading to rickets. It uses Next Generation Sequencing (NGS) for comprehensive analysis.
LEMD3 Gene Buschke-Ollendorff Syndrome Genetic Test
Genetic test for mutations in the LEMD3 gene associated with Buschke-Ollendorff syndrome, using Next Generation Sequencing (NGS) technology.
IDH1 Gene Metaphyseal Chondromatosis with Increased Urinary Excretion of D-2-Hydroxyglutarate Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the IDH1 gene and urinary D-2-hydroxyglutarate levels, aiding in the diagnosis of metaphyseal chondromatosis and related bone disorders.
PHOX2B Gene Central Hypoventilation Syndrome With or Without Hirschsprung Disease Genetic Test
Genetic test to identify mutations in the PHOX2B gene associated with Central Hypoventilation Syndrome and Hirschsprung disease using Next-Generation Sequencing (NGS).
UMOD Gene Medullary Cystic Kidney Disease Type 2 Genetic Test
This genetic test identifies mutations in the UMOD gene associated with Medullary Cystic Kidney Disease Type 2 (MCKD2), aiding in early diagnosis and management of kidney disorders.
CRELD1 Gene Atrioventricular Septal Defect Partial with Heterotaxy Syndrome Genetic Test
Genetic test identifying mutations in the CRELD1 gene associated with congenital heart defects like atrioventricular septal defects and heterotaxy syndrome.
IRF6 Gene Orofacial Cleft Type 6 Genetic Test
Genetic test to identify mutations in the IRF6 gene associated with orofacial clefts (cleft lip and/or palate). Helps understand genetic risks and inform family planning.
AIP Gene Pituitary Adenoma ACTH-Secreting Due to AIP Germline Mutation Genetic Test
Genetic test to identify mutations in the AIP gene associated with ACTH-secreting pituitary adenomas. Helps understand genetic risk factors for these tumors.
VCP Gene Amyotrophic Lateral Sclerosis Type 14 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the VCP gene associated with Amyotrophic Lateral Sclerosis (ALS) type 14. Helps in diagnosing and understanding genetic predispositions to neurological disorders.
Sptan1 Gene Early Infantile Epileptic Encephalopathy Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SPTAN1 gene, associated with early infantile epileptic encephalopathy type 5. Helps diagnose rare neurological disorders in infants.
MECP2 Gene Mental Retardation X-Linked Syndromic Lubs Type Genetic Test
This genetic test identifies mutations in the MECP2 gene, which is linked to certain neurological disorders and developmental delays. It uses Next-Generation Sequencing (NGS) technology.
GTPBP2 Gene Neurodegeneration with Brain Iron Accumulation GTPBP2 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GTPBP2 gene associated with neurodegeneration with brain iron accumulation. Helps diagnose neurological disorders.
SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type Genetic Test
Genetic test for mutations in the SLC25A19 gene, associated with thiamine metabolism disorders and progressive polyneuropathy. Uses Next Generation Sequencing (NGS) technology.
NNT Gene Glucocorticoid Deficiency Type 4 with or Without Mineralocorticoid Deficiency Genetic Test
Genetic test to identify mutations in the NNT gene associated with Glucocorticoid Deficiency Type 4, potentially impacting glucocorticoid and mineralocorticoid function.
AASS Gene Saccharopinuria Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the AASS gene for mutations related to saccharopinuria, a metabolic disorder. Recommended for individuals with a family history or symptoms.
C1QA Gene C1q Deficiency Genetic Test
The C1QA Gene C1q Deficiency NGS Genetic DNA Test helps diagnose genetic conditions linked to immunology and dermatology by analysing the C1QA gene using Next Generation Sequencing (NGS).
MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MAFB gene associated with Multicentric Carpotarsal Osteolysis Syndrome. Helps understand hereditary bone disorders.
PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia Genetic Test
This genetic test analyzes the PRKD1 gene to identify potential risks for congenital heart defects and ectodermal dysplasia. It uses Next Generation Sequencing (NGS) technology.
MEN1 Gene Multiple Endocrine Neoplasia Type 1 Genetic Test
The MEN1 Gene Multiple Endocrine Neoplasia Type 1 (MEN1) Genetic Test identifies mutations in the MEN1 gene, helping to diagnose genetic predisposition to MEN1. This test is important for individuals with a family history of MEN1 or related symptoms.
GNAI3 Gene Auriculocondylar Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the GNAI3 gene associated with Auriculocondylar Syndrome Type 1. Uses Next Generation Sequencing (NGS) technology on DNA samples.
C2CD3 Gene Orofaciodigital Syndrome Type 14 Genetic Test
This genetic test identifies mutations in the C2CD3 gene associated with Orofaciodigital syndrome type 14, a rare genetic disorder. It uses Next-Generation Sequencing (NGS) technology for comprehensive analysis.
AIP Gene Pituitary Adenoma Growth Hormone-Secreting Due to AIP Germline Mutation Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the AIP gene associated with growth hormone-secreting pituitary adenomas. Helps identify predisposition, especially with family history.
Influenza B RNA Detection Qualitative Test
Detects the presence of the Influenza B virus using Real Time PCR technology. Recommended for individuals with flu-like symptoms or those at high risk of complications.
SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 Genetic Test
The SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the SIGMAR1 gene associated with Amyotrophic Lateral Sclerosis (ALS), a progressive neurological disorder. This test can help individuals with a family history or symptoms understand their genetic risk.
SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SCN1A gene associated with early infantile epileptic encephalopathy type 6, a severe neurological disorder in infants.
MBD5 Gene Mental Retardation Autosomal Dominant Type 1 Genetic Test
This genetic test identifies mutations in the MBD5 gene, associated with certain neurological disorders and developmental delays. It uses advanced Next Generation Sequencing (NGS) technology.
Brat1 Gene Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures Genetic Test
Genetic test for mutations in the BRAT1 gene, associated with neurodevelopmental disorders, cerebellar atrophy, and seizures. Aids in diagnosis and management.
PDE8B Gene Striatal Degeneration Genetic Test
The PDE8B Gene Striatal Degeneration NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders affecting movement and cognition. This test uses Next-Generation Sequencing (NGS) to analyze the PDE8B gene, aiding in understanding risk factors and guiding treatment.
FTCD Gene Glutamate Formiminotransferase Deficiency Genetic Test
Genetic test to identify mutations in the FTCD gene, associated with glutamate formiminotransferase deficiency, a metabolic disorder. Utilizes Next Generation Sequencing (NGS) technology.
CYP27B1 Gene Rickets Vitamin D Dependent Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CYP27B1 gene, associated with Vitamin D dependent rickets type 1. Helps diagnose metabolic disorders related to Vitamin D metabolism.
C2 Gene C2 Deficiency Genetic Test
The C2 Gene C2 Deficiency NGS Genetic DNA Test identifies genetic variations linked to C2 deficiency, a condition associated with immune system disorders. This test uses advanced Next-Generation Sequencing (NGS) technology to analyze the C2 gene. Confirm with the laboratory before booking.
CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type Genetic Test
Genetic test for mutations in the CHRNA1 gene associated with Multiple Pterygium Syndrome Lethal Type. Uses Next-Generation Sequencing (NGS) for accurate diagnosis.
GATA5 Gene Congenital Heart Defects Multiple Types Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GATA5 gene associated with various congenital heart defects. Recommended for individuals with a family history or symptoms of heart conditions.
CLCN5 Gene Nephrolithiasis Type 1 Genetic Test
Genetic test to identify mutations in the CLCN5 gene associated with a predisposition to kidney stones (nephrolithiasis).
PITX2 Gene Axenfeld-Rieger Syndrome Type 1 Genetic Test
This genetic test analyzes the PITX2 gene to detect mutations associated with Axenfeld-Rieger syndrome, a condition affecting eye development and potentially other body systems. It uses Next Generation Sequencing (NGS) technology.
Nectin1 Gene Orofacial Cleft Type 7 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the Nectin1 gene, identifying potential genetic predispositions to orofacial clefts. Useful for families with a history of these conditions.
AIP Gene Pituitary Adenoma Prolactin-Secreting Due to AIP Germline Mutation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the AIP gene associated with prolactin-secreting pituitary adenomas. Helps identify genetic predisposition for early management.
Plasminogen Activator Inhibitor 1 (SERPINE1) 4G/5G Genotyping Test
The Plasminogen Activator Inhibitor 1 (SERPINE1) 4G/5G Genotyping Test assesses genetic risk factors for thromboembolic disorders like blood clots. Understanding your predisposition can help with early management.
CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 Genetic Test
Genetic test analyzing the CHMP2B gene to identify mutations associated with Amyotrophic Lateral Sclerosis (ALS) Type 17, aiding in diagnosis and risk assessment.
CUX2 Gene Early Infantile Epileptic Encephalopathy Type 67 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CUX2 gene associated with Early Infantile Epileptic Encephalopathy (EIEE).
SOBP Gene Mental Retardation Anterior Maxillary Protrusion and Strabismus Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SOBP gene for variations linked to mental retardation, anterior maxillary protrusion, and strabismus. Helps understand genetic predispositions and potential health risks.
ADAM22 Gene Neurodevelopmental Disorder ADAM22 Related Genetic Test
Genetic test analyzing the ADAM22 gene to help understand the genetic basis of neurodevelopmental disorders. Utilizes Next Generation Sequencing (NGS) technology.
CACNA1S Gene Thyrotoxic Periodic Paralysis Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CACNA1S gene associated with Thyrotoxic Periodic Paralysis Type 1. Helps diagnose and manage this neurological condition.
GLUL Gene Glutamine Deficiency Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GLUL gene associated with congenital glutamine deficiency, a metabolic disorder. Confirm with the laboratory before booking.
SARDH Gene Sarcosinemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SARDH gene associated with sarcosinemia, a rare metabolic disorder. Helps in early diagnosis and management.
C3 Gene C3 Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the C3 gene, crucial for immune system function. Helps diagnose C3 deficiency and related immunological disorders.
CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test
This genetic test identifies mutations in the CHRND gene associated with lethal multiple pterygium syndrome, using Next Generation Sequencing (NGS) technology. It is important for diagnosis and management.
TAB2 Gene Congenital Heart Defects Multiple Types Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TAB2 gene associated with various congenital heart defects. Helps in early detection and management.
AVPR2 Gene Nephrogenic Syndrome of Inappropriate Antidiuresis Genetic Test
This genetic test identifies mutations in the AVPR2 gene associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD), a condition affecting water balance. It uses Next Generation Sequencing (NGS) technology.
FOXC1 Gene Axenfeld-Rieger Syndrome Type 3 Genetic Test
Genetic test analyzing the FOXC1 gene to identify mutations associated with Axenfeld-Rieger syndrome Type 3, aiding in diagnosis and understanding genetic risks.
TCTN3 Gene Orofaciodigital Syndrome Type 4 Genetic Test
Genetic test to identify mutations in the TCTN3 gene, associated with Orofaciodigital syndrome type 4. Uses Next-Generation Sequencing (NGS) technology.
DICER1 Gene Pleuropulmonary Blastoma Genetic Test
Genetic test to identify mutations in the DICER1 gene associated with pleuropulmonary blastoma, a rare cancer. Helps assess genetic risk.
Chlamydia Trachomatis PCR Test
A highly sensitive PCR test to detect Chlamydia Trachomatis, a common STI. Early diagnosis is key to preventing complications like infertility. No special preparation needed.
Hepatitis B Viral Drug Resistance Genotyping Test
This test checks if the Hepatitis B virus in your body has become resistant to antiviral medications. It helps doctors choose the best treatment plan for chronic Hepatitis B.
TPMT Thiopurine Methyl Transferase Genotyping Test
The TPMT Thiopurine Methyl Transferase Genotyping Test assesses your genetic makeup related to the TPMT enzyme, which processes thiopurine medications. This helps guide safe and effective dosing for conditions like leukemia and autoimmune diseases.
PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 Genetic Test
Genetic test analyzing the PFN1 gene to identify variations associated with Amyotrophic Lateral Sclerosis (ALS), a neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
KCNQ2 Gene Early Infantile Epileptic Encephalopathy Type 7 Genetic Test
Genetic test to identify mutations in the KCNQ2 gene, associated with early infantile epileptic encephalopathy. Helps diagnose the genetic cause of severe epilepsy in infants.
EPB41L1 Gene Mental Retardation Autosomal Dominant Type 11 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EPB41L1 gene associated with certain forms of mental retardation. Confirm with the laboratory before booking.
APC2 Gene Neurodevelopmental Disorder APC2-related Genetic Test
This genetic test analyzes the APC2 gene using Next Generation Sequencing (NGS) to identify variations linked to neurodevelopmental disorders. It can help understand genetic risk factors for neurological conditions.
TTN Gene Tibial Muscular Dystrophy Tardive Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TTN gene associated with Tibial Muscular Dystrophy Tardive. Helps diagnose genetic predisposition to this form of muscular dystrophy.
GCDH Gene Glutaric Acidemia Type 1 Genetic Test
Genetic test to identify mutations in the GCDH gene associated with glutaric acidemia type 1, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
IDUA Gene Scheie Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the IDUA gene associated with Scheie syndrome, a type of metabolic disorder. Helps in diagnosis and understanding genetic risks.
C7 Gene C7 Deficiency Genetic Test
The C7 Gene C7 Deficiency NGS Genetic DNA Test identifies genetic mutations in the C7 gene associated with C7 deficiency, a condition linked to certain immune and skin disorders. This test is important for individuals with a family history or symptoms suggestive of related conditions.
IFNGR1 Gene Mycobacterial Infection Atypical Familial Disseminated Genetic Test
Genetic test to identify predispositions to atypical mycobacterial infections by analysing the IFNGR1 gene using Next-Generation Sequencing (NGS).
DBH Gene Dopamine Beta-Hydroxylase DBH Deficiency Genetic Test
The DBH Gene Dopamine Beta-Hydroxylase DBH Deficiency NGS Genetic DNA Test identifies genetic mutations linked to DBH deficiency, which can cause cardiovascular and pneumology disorders. This test uses Next Generation Sequencing (NGS) technology.
SLC34A1 Gene Nephrolithiasis Osteoporosis Hypophosphatemic Type 1 Genetic Test
Genetic test to identify mutations in the SLC34A1 gene associated with an increased risk of developing kidney stones (nephrolithiasis) and osteoporosis. This test uses Next-Generation Sequencing (NGS) technology.
ASXL3 Gene Bainbridge-Ropers Syndrome Genetic Test
Genetic test to identify mutations in the ASXL3 gene associated with Bainbridge-Ropers syndrome, aiding in diagnosis and management.
CPLANE1 Gene Orofaciodigital Syndrome Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CPLANE1 gene associated with Orofaciodigital syndrome type 6. Recommended for individuals with relevant symptoms or family history.
JAK2 Gene Polycythemia Vera Somatic Genetic Test
This genetic test detects mutations in the JAK2 gene, commonly linked to polycythemia vera (PV), a type of blood cancer. It helps in diagnosing PV and guiding treatment decisions.
IFN Gamma Quantitative Test
The IFN Gamma Quantitative Test measures interferon gamma levels to evaluate the immune response to viral infections and diagnose immune-related disorders.
Adenovirus Antigen for Respiratory Infections Test
Detects adenovirus antigens in respiratory samples to diagnose infections causing symptoms like fever, cough, and sore throat. Essential for managing respiratory illnesses.
Enteroviruses Qualitative PCR Test
Detects the presence of enteroviruses, which can cause various infections. This qualitative PCR test helps in early diagnosis for timely management.
Hepatitis B Virus Genotyping Drug Resistance Quantitative PCR Test
This test measures the amount of Hepatitis B virus (HBV) in your blood, identifies the virus genotype, and detects mutations that may cause resistance to antiviral medications. It helps guide effective treatment for liver disorders.
ALS2 Gene Amyotrophic Lateral Sclerosis Type 2 Juvenile Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ALS2 gene, associated with juvenile-onset amyotrophic lateral sclerosis (ALS).
ARHGEF9 Gene Early Infantile Epileptic Encephalopathy Type 8 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ARHGEF9 gene associated with early infantile epileptic encephalopathy. Recommended for infants with seizures or developmental delays.
ARID1B Gene Mental Retardation Autosomal Dominant Type 12 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ARID1B gene, aiding in the diagnosis of developmental delays and intellectual disabilities linked to this gene.
CNTNAP4 Gene Neurodevelopmental Disorder CNTNAP4 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CNTNAP4 gene, associated with neurodevelopmental disorders. Helps in early diagnosis and management.
KCNJ18 Gene Thyrotoxic Periodic Paralysis Type 2 Genetic Test
Genetic test for mutations in the KCNJ18 gene associated with Thyrotoxic Periodic Paralysis Type 2, a rare neurological disorder causing muscle weakness.
SUGCT Gene Glutaric Aciduria Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SUGCT gene associated with Glutaric aciduria type 3, a rare metabolic disorder. Essential for early diagnosis and management, particularly for individuals with a family history.
SERHL2 Gene Serine Hydrolase Deficiency SERHL2 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SERHL2 gene associated with serine hydrolase deficiency and related metabolic disorders.
C5 Gene C5 Deficiency Genetic Test
Genetic test to identify deficiencies in the C5 gene, crucial for immune system function. Uses Next-Generation Sequencing (NGS) technology.
KRT14 Gene Naegeli-Franceschetti-Jadassohn Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KRT14 gene associated with Naegeli-Franceschetti-Jadassohn syndrome, a rare skin condition. Aids in early diagnosis and management.
SCN1B Gene Familial Atrial Fibrillation Type 13 Genetic Test
Genetic test to identify mutations in the SCN1B gene associated with familial atrial fibrillation, helping assess individual risk for this heart rhythm disorder.
NPHP1 Gene Nephronophthisis Type 1 Genetic Test
Genetic test to identify mutations in the NPHP1 gene associated with nephronophthisis, a kidney disorder. Aids in early diagnosis and management.
OCLN Gene Bandlike Calcification with Simplified Gyration and Polymicrogyria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the OCLN gene, associated with specific brain development conditions. Helps identify genetic causes of neurological disorders.
FGFR1 Gene Osteoglophonic Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FGFR1 gene associated with osteoglophonic dysplasia. Helps in diagnosis and management.
GREM1 Gene Polyposis Syndrome Hereditary Mixed Genetic Test
Genetic test for the GREM1 gene, associated with hereditary mixed polyposis syndrome. Helps identify increased risk for certain cancers, particularly colorectal cancer, based on family history.
Metabolic Disorder Gene Panel
The Metabolic Disorder Gene Panel is a genetic test that identifies mutations linked to various metabolic disorders, aiding in early diagnosis and management. Confirm with the laboratory before booking.
Adrb2 Genotyping For Beta2 Agonist Responsiveness Test
Understand your genetic response to beta2 agonist medications used for respiratory conditions like asthma and COPD with the Adrb2 Genotyping test.
Chlamydia Trachomatis and Neisseria Gonorrhoeae PCR Qualitative Test
Detects Chlamydia Trachomatis and Neisseria Gonorrhoeae, common STIs, using a sensitive PCR test. Early detection is key for timely treatment and preventing complications. Confirm price and availability before booking.
MATR3 Gene Amyotrophic Lateral Sclerosis Type 21 Genetic Test
This genetic test analyzes the MATR3 gene to identify mutations associated with Amyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disorder. It uses Next-Generation Sequencing (NGS) technology.
PCDH19 Gene Early Infantile Epileptic Encephalopathy Type 9 Genetic Test
Genetic test analyzing the PCDH19 gene to help diagnose Early Infantile Epileptic Encephalopathy Type 9, a severe neurological disorder in infants. Early diagnosis can guide treatment and management.
Dync1h1 Gene Mental Retardation Autosomal Dominant Type 13 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DYNC1H1 gene associated with autosomal dominant mental retardation type 13 and other neurological disorders.
CROCC Gene Neurodevelopmental Disorder CROCC Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CROCC gene associated with neurodevelopmental disorders. Helps inform diagnosis and management.
SLITRK1 Gene Tourette Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLITRK1 gene, which may be associated with Tourette syndrome. This test can help clarify diagnosis and guide management for individuals with symptoms or a family history of the condition.
ETFDH Gene Glutaric Acidemia Type 2C Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ETFDH gene associated with Glutaric Acidemia Type 2C, a rare metabolic disorder. Helps in diagnosis and management.
NAGA Gene Schindler Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NAGA gene associated with Schindler disease, a rare metabolic disorder. Helps in early diagnosis and management.
Lyst Gene Chediak-Higashi Syndrome Genetic Test
Genetic test to identify mutations in the LYST gene associated with Chediak-Higashi syndrome, a rare disorder affecting immune function and skin.
LMX1B Gene Nail-Patella Syndrome Genetic Test
Genetic test to detect mutations in the LMX1B gene associated with Nail-Patella syndrome. Helps identify individuals with symptoms or family history of the condition.
SCN5A Gene Heart Block Progressive Familial Type 1A Genetic Test
Genetic test to identify mutations in the SCN5A gene associated with Progressive Familial Heart Block Type 1A. Helps understand genetic risk for heart conditions.
TTC21B Gene Nephronophthisis Type 12 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TTC21B gene associated with Nephronophthisis Type 12, a kidney disorder. Helps in early diagnosis and management.
ACTG1 Gene Baraitser-Winter Syndrome Type 2 Genetic Test
The ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic DNA Test helps diagnose genetic conditions in children by analyzing the ACTG1 gene. This test uses Next-Generation Sequencing (NGS) technology to identify mutations associated with Baraitser-Winter syndrome type 2.
DDX59 Gene Orofaciodigital Syndrome Type 5 Genetic Test
This genetic test identifies mutations in the DDX59 gene associated with Orofaciodigital syndrome type 5, aiding in diagnosis and management.
BMPR1A Gene Polyposis Syndrome Hereditary Mixed Type 2 Genetic Test
Genetic test for mutations in the BMPR1A gene associated with hereditary polyposis syndromes and increased cancer risk. Recommended for individuals with a family history of polyposis or related cancers.
Methylenetetrahydrofolate Reductase MTHFR 2 Variants C677T A1298C
The Methylenetetrahydrofolate Reductase (MTHFR) test checks for two common genetic variants, C677T and A1298C, which can affect how your body processes folate. Understanding these variants may help identify potential health risks related to folate metabolism.
JCBK Viral Load Quantitative Test
The JCBK Viral Load Quantitative Test measures the amount of viral RNA in your blood. It's essential for monitoring viral infections like HIV or Hepatitis and assessing treatment effectiveness. This test helps healthcare providers tailor your care.
Adenovirus Qualitative PCR Test
Detects the presence of adenovirus genetic material using PCR technology. This test helps identify adenovirus infections causing respiratory or gastrointestinal symptoms.
Magnesium 24 Hour Urine Test
The Magnesium 24 Hour Urine Test measures magnesium levels excreted over 24 hours, helping to identify potential deficiencies or excesses. This test is important for assessing magnesium balance and related health conditions.
PML RARA t15 17q22q12 Gene Rearrangement Quantitative MRD Monitor Test
Monitors minimal residual disease (MRD) in patients with acute promyelocytic leukemia (APL) using Real Time PCR to detect the PML-RARA gene rearrangement.
SETX Gene Amyotrophic Lateral Sclerosis Type 4 Genetic Test
Genetic test to identify mutations in the SETX gene associated with Amyotrophic Lateral Sclerosis (ALS), a progressive neurological disorder. Utilizes Next-Generation Sequencing (NGS) technology.
EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the EMD gene, associated with Emery-Dreifuss Muscular Dystrophy Type 1. Helps in diagnosing this rare genetic disorder affecting muscle and heart function.
ARID1A Gene Mental Retardation Autosomal Dominant Type 14 Genetic Test
This genetic test analyzes the ARID1A gene to help identify potential genetic causes of certain neurological disorders, including developmental delays and cognitive impairments. It uses Next Generation Sequencing (NGS) technology.
FRMPD4 Gene Neurodevelopmental Disorder FRMPD4 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FRMPD4 gene, associated with neurodevelopmental disorders. Helps diagnose genetic causes of developmental delays and neurological issues.
FUS Gene Tremor Essential Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FUS gene associated with essential tremor type 4, a neurological disorder. Helps understand genetic factors influencing tremors.
GSS Gene Glutathione Synthetase Deficiency Genetic Test
The GSS Gene Glutathione Synthetase Deficiency NGS Genetic DNA Test identifies genetic mutations linked to glutathione synthetase deficiency, a rare metabolic disorder. This test uses Next-Generation Sequencing (NGS) to help diagnose and manage related health issues.
ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ALDH5A1 gene, associated with Succinic Semialdehyde Dehydrogenase Deficiency, a rare metabolic disorder. Helps diagnose metabolic conditions.
Ptpn14 Gene Choanal Atresia And Lymphedema Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PTPN14 gene, identifying predispositions to choanal atresia and lymphedema. Helps understand genetic health risks and inform medical decisions.
SLC9A3R1 Gene Nephrolithiasis Osteoporosis Hypophosphatemic Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SLC9A3R1 gene for variations associated with nephrolithiasis (kidney stones) and osteoporosis. Helps identify genetic predispositions to these conditions.
LMNA Gene Heart-Hand Syndrome Slovenian Type Genetic Test
Genetic test to detect mutations in the LMNA gene associated with Heart-Hand Syndrome Slovenian Type, a cardiovascular condition. Helps identify genetic risks for early management.
WDR19 Gene Nephronophthisis Type 13 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the WDR19 gene, associated with Nephronophthisis Type 13, a rare kidney disorder.
ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ACTB gene associated with Baraitser-Winter Syndrome Type 1. Helps diagnose this rare condition characterized by developmental delays and distinct facial features.
EYA1 Gene Otofaciocervical Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the EYA1 gene associated with Otofaciocervical Syndrome. Helps in diagnosing developmental issues affecting the head and neck.
Stag1 Gene Prostate Cancer Genetic Test
Assess your genetic risk for prostate cancer with the Stag1 Gene NGS DNA Test. Utilizes advanced sequencing technology to identify potential predispositions. Confirm with the laboratory before booking.
mFISH
The mFISH (Multiplex Fluorescence In Situ Hybridization) test is an advanced genetic diagnostic tool used to detect chromosomal abnormalities in bone marrow or peripheral blood samples, aiding in the diagnosis of genetic disorders and cancers.
Jak2 Mutation Detection RNA Detection Qualitative Test
This test detects mutations in the JAK2 gene from an RNA sample, aiding in the diagnosis of certain blood disorders like polycythemia vera and essential thrombocythemia.
Inv16 P13q22 T1616P13q22 Gene Rearrangement Quantitative MRD Monitor Test
This test monitors minimal residual disease (MRD) in cancer patients, helping doctors track treatment effectiveness and disease progression. It measures specific gene rearrangements using advanced molecular techniques.
Episodic Ataxia Comprehensive Profile Hotspot Test
The Episodic Ataxia Comprehensive Profile Hotspot Test helps diagnose genetic causes of episodic ataxia, a neurological disorder affecting coordination and balance. This test analyzes key genes associated with the condition.
PML RARA t1517q22q12 Gene Rearrangement Qualitative PCR Test
This test detects the PML-RARA gene fusion, a specific genetic marker for acute promyelocytic leukemia (APL), a subtype of acute myeloid leukemia (AML). It helps confirm diagnosis and guide treatment.
FUS Gene Amyotrophic Lateral Sclerosis Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FUS gene associated with Amyotrophic Lateral Sclerosis (ALS) Type 6. Helps understand genetic risk for individuals with neurological symptoms or family history.
LMNA Gene Emery-Dreifuss Muscular Dystrophy Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LMNA gene, aiding in the diagnosis of Emery-Dreifuss Muscular Dystrophy Type 2 (EDMD).
TRAPPC9 Gene Mental Retardation Autosomal Dominant Type 13 Genetic Test
Genetic test to identify mutations in the TRAPPC9 gene associated with certain neurological disorders and developmental delays. Uses Next Generation Sequencing (NGS) technology.
KCTD3 Gene Neurodevelopmental Disorder KCTD3 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the KCTD3 gene, associated with neurodevelopmental disorders. Confirm with the laboratory before booking.
DRD3 Gene Tremor Essential Type 1 Hereditary Genetic Test
Genetic test to identify mutations in the DRD3 gene associated with essential tremors, aiding in diagnosis and management.
GSTT1 Gene Glutathione S-Transferase Theta-1 Deficiency Genetic Test
The GSTT1 Gene test identifies deficiencies in the Glutathione S-Transferase Theta-1 gene, which can be linked to metabolic disorders. This test uses Next Generation Sequencing (NGS) technology.
OXCT1 Gene Succinyl CoA:3-oxoacid CoA Transferase Deficiency Genetic Test
This genetic test analyzes the OXCT1 gene to identify mutations associated with Succinyl CoA:3-oxoacid CoA Transferase Deficiency, a metabolic disorder. It helps in diagnosing potential health risks and guiding treatment.
ANKH Gene Chondrocalcinosis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ANKH gene associated with Chondrocalcinosis Type 2. Helps understand genetic risk for this joint condition.
SPINK5 Gene Netherton Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the SPINK5 gene for mutations associated with Netherton syndrome, a rare skin disorder. Confirm with the laboratory before booking.
KCNQ1 Gene Jervell and Lange-Nielsen Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the KCNQ1 gene associated with Jervell and Lange-Nielsen Syndrome, a condition linked to heart rhythm problems.
ZNF423 Gene Nephronophthisis Type 14 Genetic Test
The ZNF423 Gene Nephronophthisis Type 14 NGS Genetic DNA Test identifies mutations in the ZNF423 gene associated with nephronophthisis, a rare kidney disorder. This test aids in early diagnosis and management.
Sufu Gene Basal Cell Nevus Syndrome Genetic Test
Genetic test to identify mutations in the SUFU gene associated with Basal Cell Nevus Syndrome (BCNS). Uses Next-Generation Sequencing (NGS) for accurate detection.
COL11A2 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test
Genetic test for mutations in the COL11A2 gene, associated with Otospondylomegaepiphyseal Dysplasia, a rare skeletal disorder. Uses Next Generation Sequencing (NGS) technology.
ZNF783 Gene Prostate Cancer Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ZNF783 gene associated with an increased risk of prostate cancer. Helps assess individual risk and guide management.
Methylenetetrahydrofolate Reductase MTHFR Factor V F5 Factor II F2
Genetic test assessing mutations in MTHFR, Factor V (F5), and Factor II (F2) genes linked to thrombotic disorders and homocysteine metabolism. Helps identify potential increased risk for blood clots.
JCBK DNA Detection RNA Detection Qualitative Test
A diagnostic test using Real Time PCR to detect specific viral RNA in samples like blood, urine, or CSF, aiding in the identification of viral infections.
Episodic Ataxia Type 1 Hotspot Test
The Episodic Ataxia Type 1 Hotspot Test identifies specific genetic mutations in the KCNA1 gene associated with episodic ataxia, a neurological disorder affecting balance and coordination.
Hepatitis C Viral RNA HCV RNA Quantitative Ultra Test
Detects and quantifies the Hepatitis C virus (HCV) RNA in your blood. This test helps diagnose HCV infection, assess its activity, and monitor treatment effectiveness.
Magnesium Serum Test
The Magnesium Serum Test measures the amount of magnesium in your blood. This essential mineral is vital for muscle, nerve, and blood sugar control. This test helps identify imbalances.
PML RARA t15 17q22q12 Gene Rearrangement Quantitative PCR Test
This genetic test detects the PML-RARA gene rearrangement, a key marker for acute promyelocytic leukemia (APL), aiding in diagnosis and treatment monitoring.
VAPB Gene Amyotrophic Lateral Sclerosis Type 8 Genetic Test
Genetic test to detect mutations in the VAPB gene associated with Amyotrophic Lateral Sclerosis (ALS) Type 8, using Next Generation Sequencing (NGS) technology.
SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SYNE1 gene associated with Emery-Dreifuss Muscular Dystrophy Type 4. Helps confirm diagnosis and guide management.
SMARCA4 Gene Mental Retardation Autosomal Dominant Type 16 Genetic Test
This genetic test identifies mutations in the SMARCA4 gene, which are associated with certain neurological disorders and developmental delays. It uses Next-Generation Sequencing (NGS) technology.
MACF1 Gene Neurodevelopmental Disorder MACF1 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MACF1 gene, which are linked to neurodevelopmental disorders. Helps understand genetic factors contributing to conditions like developmental delays and intellectual disabilities.
TSC2 Gene Tuberous Sclerosis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TSC2 gene, associated with Tuberous Sclerosis Complex (TSC).
GK Gene Glycerol Kinase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GK gene associated with Glycerol Kinase deficiency, a metabolic disorder. Confirm with the laboratory before booking.
SI Gene Sucrase-Isomaltase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SI gene associated with sucrase-isomaltase deficiency, a disorder affecting carbohydrate digestion. Helps guide dietary management.
EBP Gene Chondrodysplasia Punctata X-Linked Dominant Genetic Test
This genetic test analyzes the EBP gene to identify mutations associated with X-linked dominant chondrodysplasia punctata, a condition causing skeletal abnormalities. It uses Next Generation Sequencing (NGS) technology.
Spred1 Gene Neurofibromatosis Type 1 Like Syndrome Genetic Test
Genetic test for mutations in the SPRED1 gene associated with Neurofibromatosis Type 1-like syndrome. Helps identify genetic predispositions and inform health management.
KCNE1 Gene Jervell and LangeNielsen Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the KCNE1 gene associated with Jervell and Lange-Nielsen syndrome type 2, a condition linked to serious heart rhythm problems.
ANKS6 Gene Nephronophthisis Type 16 Genetic Test
The ANKS6 Gene Nephronophthisis Type 16 Genetic Test identifies genetic mutations linked to nephronophthisis, a rare kidney disorder. This test uses Next Generation Sequencing (NGS) technology to analyze the ANKS6 gene, aiding in early diagnosis and management for individuals with a family history or symptoms of kidney disease.
PTCH1 Gene Basal Cell Nevus Syndrome Genetic Test
Genetic test for mutations in the PTCH1 gene associated with Basal Cell Nevus Syndrome (BCNS). Helps identify hereditary risks for early diagnosis and management.
GLI3 Gene Pallister-Hall Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GLI3 gene associated with Pallister-Hall syndrome. Helps in early diagnosis and management.
Hoxb13 Gene Prostate Cancer Familial Association with Genetic Test
This genetic test analyzes the Hoxb13 gene to assess potential inherited risk factors associated with prostate cancer, using Next-Generation Sequencing (NGS) technology.
MGMT Methylation Panel
The MGMT Methylation Panel assesses the methylation status of the MGMT gene, providing insights into susceptibility to certain cancers. This test helps understand genetic risk factors.
Episodic Ataxia Type 2 Hotspot Test
Genetic test to identify mutations in the CACNA1A gene associated with Episodic Ataxia Type 2 and related neurological disorders.
Malaria Detection PCR Test
Detect malaria parasites accurately using advanced PCR technology. Essential for timely diagnosis and treatment, especially for those with symptoms or travel history to endemic areas. Available across Kenya with home sample collection.
ANG Gene Amyotrophic Lateral Sclerosis Type 9 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ANG gene associated with Amyotrophic Lateral Sclerosis (ALS) Type 9. Useful for individuals with a family history or symptoms suggestive of ALS.
FHL1 Gene Emery-Dreifuss Muscular Dystrophy Type 6 Genetic Test
Genetic test to identify mutations in the FHL1 gene associated with Emery-Dreifuss Muscular Dystrophy Type 6, using Next-Generation Sequencing (NGS).
SMARCB1 Gene Mental Retardation Autosomal Dominant Type 15 Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify mutations in the SMARCB1 gene, which can be associated with certain types of mental retardation. It helps in diagnosing neurological disorders linked to this gene.
NGEF Gene Neurodevelopmental Disorder NGEF Related Genetic Test
The NGEF Gene Neurodevelopmental Disorder Genetic Test identifies mutations in the NGEF gene associated with neurodevelopmental disorders. This advanced genetic analysis uses Next-Generation Sequencing (NGS) technology to provide comprehensive insights for diagnosis and management.
TSC1 Gene Tuberous Sclerosis Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TSC1 gene, aiding in the diagnosis of Tuberous Sclerosis Complex (TSC).
PRKAG2 Gene Glycogen Storage Disease of Heart Lethal Genetic Test
Genetic test to identify mutations in the PRKAG2 gene associated with glycogen storage diseases affecting the heart. Useful for individuals with a family history or symptoms.
SUOX Gene Sulfite Oxidase Deficiency Genetic Test
The SUOX Gene Sulfite Oxidase Deficiency NGS Genetic DNA Test identifies mutations in the SUOX gene, crucial for diagnosing sulfite oxidase deficiency, a metabolic disorder. This test aids in understanding genetic risks and guiding management.
ARSE Gene Chondrodysplasia Punctata X-Linked Recessive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the ARSE gene associated with X-linked chondrodysplasia punctata. Helps diagnose this rare genetic disorder.
NF1 Gene Neurofibromatosis Type 1 Genetic Test
The NF1 Gene Neurofibromatosis Type 1 NGS Genetic DNA Test helps diagnose Neurofibromatosis Type 1 (NF1), a genetic disorder causing nerve tumors. This test identifies mutations in the NF1 gene, aiding in disease management and family planning.
DTNA Gene Left Ventricular Noncompaction 1 With or Without Congenital Heart Defects Genetic Test
Genetic test analyzing the DTNA gene to identify predispositions to left ventricular noncompaction and related congenital heart defects using Next Generation Sequencing (NGS).
DCDC2 Gene Nephronophthisis Type 19 Genetic Test
This genetic test identifies mutations in the DCDC2 gene associated with nephronophthisis, a hereditary kidney disorder. It uses Next-Generation Sequencing (NGS) technology to analyze DNA for accurate diagnosis.
SLC20A2 Gene Basal Ganglia Calcification Type 1 Ideopathic Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the SLC20A2 gene associated with basal ganglia calcification Type 1. Helps understand genetic predisposition and guide management.
COL2A1 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test
Genetic test to identify mutations in the COL2A1 gene associated with Otospondylomegaepiphyseal Dysplasia, a rare skeletal disorder. Helps diagnose genetic causes of skeletal abnormalities.
ELAC2 Gene Prostate Cancer Hereditary Type 2 Susceptibility to Genetic Test
The ELAC2 Gene Prostate Cancer Hereditary Type 2 Susceptibility Genetic Test uses Next Generation Sequencing (NGS) to assess genetic risk for prostate cancer. This test helps identify hereditary predispositions, enabling proactive health management, especially for those with a family history.
Microarray 180K AFCVSCBPOCPB
The Microarray 180K AFCVSCBPOCPB test analyzes chromosomes for abnormalities, offering insights into genetic health, particularly during pregnancy. Confirm with the laboratory before booking.
Klebseilla Pneumonia RNA Detection Qualitative Test
Detects the presence of Klebsiella pneumoniae RNA, a bacterium causing respiratory infections like pneumonia. This qualitative test helps in early diagnosis.
Epstein Barr Virus EBV Qualitative PCR Test
Detects the presence of Epstein Barr Virus (EBV) DNA to help diagnose active infections, particularly in individuals with symptoms suggestive of infectious mononucleosis.
C9orf72 Gene Amyotrophic Lateral Sclerosis with Frontotemporal Dementia Genetic Test
Genetic test to detect mutations in the C9orf72 gene associated with Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD).
SyNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SYNE2 gene associated with Emery-Dreifuss Muscular Dystrophy Type 5. Helps diagnose this rare neuromuscular disorder.
PACS1 Gene Mental Retardation Autosomal Dominant Type 17 Genetic Test
This genetic test analyzes the PACS1 gene to identify mutations associated with autosomal dominant mental retardation type 17, a neurological disorder. It uses Next Generation Sequencing (NGS) technology.
MTOR Gene Neurodevelopmental Disorder MTOR Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MTOR gene associated with neurodevelopmental disorders. Helps understand the genetic basis of neurological symptoms.
COL6A2 Gene Ullrich Congenital Muscular Dystrophy Genetic Test
This genetic test identifies mutations in the COL6A2 gene, aiding in the diagnosis of Ullrich congenital muscular dystrophy (UCMD), a rare condition causing muscle weakness and joint issues. Confirm with the laboratory before booking.
SLC6A9 Gene Glycine Encephalopathy with Normal Serum Glycine Genetic Test
Genetic test to identify mutations in the SLC6A9 gene associated with glycine encephalopathy, a metabolic disorder affecting the brain. Utilizes Next Generation Sequencing (NGS) technology.
SUMF1 Gene Sulfatase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SUMF1 gene, associated with sulfatase deficiencies and metabolic disorders. Recommended for individuals with relevant symptoms or family history.
RUNX2 Gene Cleidocranial Dysplasia Genetic Test
Genetic test to identify mutations in the RUNX2 gene associated with cleidocranial dysplasia, a condition affecting bones and teeth.
NF2 Gene Neurofibromatosis Type 2 Genetic Test
The NF2 Gene Neurofibromatosis Type 2 Genetic Test identifies mutations in the NF2 gene associated with Neurofibromatosis Type 2 (NF2), a condition causing nervous system tumors. This test aids in diagnosis and management, especially for those with a family history.
MIB1 Gene Left Ventricular Noncompaction 7 Genetic Test
Genetic test analyzing the MIB1 gene to identify mutations associated with Left Ventricular Noncompaction (LVNC), a rare heart condition. Helps assess cardiovascular risk.
CEP164 Gene Nephronophthisis Type 15 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CEP164 gene associated with Nephronophthisis Type 15, a condition potentially leading to kidney failure.
PDGFRB Gene Basal Ganglia Calcification Type 4 Genetic Test
Genetic test to identify mutations in the PDGFRB gene associated with basal ganglia calcification type 4, using Next Generation Sequencing (NGS).
PAX2 Gene Papillorenal Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PAX2 gene for variations associated with Papillorenal syndrome, a condition affecting kidneys and eyes.
RNASEL Gene Prostate Cancer Hereditary Type 1 Genetic Test
Assess your hereditary risk for prostate cancer with the RNASEL Gene Prostate Cancer Hereditary Type 1 NGS Genetic DNA Test. This test uses advanced DNA sequencing to identify genetic mutations linked to increased prostate cancer risk, particularly relevant for those with a family history.
Chromosomal Microarray 315K AFCVSCBPOCPB
The Chromosomal Microarray 315K test uses advanced technology to detect genetic abnormalities like deletions and duplications, providing insights into developmental delays, intellectual disabilities, and congenital anomalies.
Microsatellite Instability MSI PCR Test
The Microsatellite Instability (MSI) PCR Test checks for genetic changes in tumor cells, helping guide cancer treatment, especially immunotherapy. Recommended for individuals with certain cancer types or family history.
Epstein Barr Virus EBV Quantitative PCR Test
The Epstein Barr Virus (EBV) Quantitative PCR Test measures the amount of EBV DNA in your blood to help diagnose and monitor EBV-related infections.
NEFH Gene Amyotrophic Lateral Sclerosis Susceptibility to Genetic Test
Assess your genetic susceptibility to Amyotrophic Lateral Sclerosis (ALS) with the NEFH Gene Genetic Test. This test uses Next Generation Sequencing (NGS) to identify mutations in the NEFH gene associated with ALS risk. Suitable for individuals with a family history or symptoms.
MTTL2 Gene Encephalomyopathy Mitochondrial MTTL2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MTTL2 gene, associated with mitochondrial encephalomyopathy. Helps diagnose neurological disorders linked to mitochondrial dysfunction.
GATAD2B Gene Mental Retardation Autosomal Dominant Type 18 Genetic Test
This genetic test identifies mutations in the GATAD2B gene, associated with certain neurological disorders and developmental delays. It uses Next Generation Sequencing (NGS) technology for accurate results.
PIGQ Gene Neurodevelopmental Disorder PIGQ Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PIGQ gene associated with neurodevelopmental disorders. Helps diagnose genetic causes of neurological conditions.
COL6A1 Gene Ullrich Congenital Muscular Dystrophy Genetic Test
Genetic test to identify mutations in the COL6A1 gene associated with Ullrich congenital muscular dystrophy using Next Generation Sequencing (NGS).
GYS1 Gene Glycogen Storage Disease Type 0 Muscle Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the GYS1 gene associated with Glycogen Storage Disease Type 0, a rare metabolic disorder affecting glycogen storage and utilization.
SFTPD Gene Surfactant Metabolism Dysfunction Genetic Test
Genetic test analyzing the SFTPD gene to identify mutations related to surfactant metabolism dysfunction, potentially causing respiratory issues. Utilizes Next-Generation Sequencing (NGS) technology.
EXT1 Gene Chondrosarcoma Familial Genetic Test
The EXT1 Gene Chondrosarcoma Familial NGS Genetic DNA Test identifies mutations in the EXT1 gene linked to familial chondrosarcoma, a rare bone cancer. This test uses Next Generation Sequencing (NGS) technology to assess hereditary risk, aiding in early diagnosis and management for individuals with a family history or symptoms.
GFI1 Gene Neutropenia Severe Congenital Type 2 Autosomal Dominant Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GFI1 gene, associated with severe congenital neutropenia. Helps diagnose genetic disorders and guide treatment.
TLR5 Gene Legionnaire Disease Susceptibility to Genetic Test
This genetic test assesses your predisposition to Legionnaire disease by analysing variations in the TLR5 gene, which influences immune response to the Legionella bacterium. It's particularly relevant for those with a family history or specific health concerns.
NPHP3 Gene Nephronophthisis Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the NPHP3 gene associated with nephronophthisis, a condition that can lead to kidney failure.
PDGFB Gene Basal Ganglia Calcification Type 5 Idiopathic Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PDGFB gene for variations associated with basal ganglia calcification. Helps understand genetic risk factors for this rare neurological condition.
MSX2 Gene Parietal Foraminal Type 1 Genetic Test
The MSX2 Gene Parietal Foraminal Type 1 Genetic Test uses Next Generation Sequencing (NGS) to analyze the MSX2 gene, identifying variations linked to specific types of dysmorphology (physical abnormalities). This test is valuable for families with concerns about craniofacial development.
HNF1A Gene Renal Cell Carcinoma Due to HNF1A Germline Mutation Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HNF1A gene, which are associated with an increased risk of developing renal cell carcinoma (kidney cancer).
Microarray 315K Single Karyotyping AFCVSCBPOCPB
The Microarray 315K Single Karyotyping test analyzes genetic material to detect chromosomal abnormalities, aiding in prenatal diagnostics, infertility assessments, and identifying genetic disorders.
Hepatitis C Viral RNA Genotype Test
The Hepatitis C Viral RNA Genotype Test identifies the specific strain of the Hepatitis C virus (HCV) in your blood. This information is crucial for effective treatment planning and monitoring.
Pompe Disease Quantitative Blood Test
The Pompe Disease Quantitative Blood Test measures the acid alpha-glucosidase enzyme level to help diagnose Pompe disease, a rare genetic disorder affecting muscles. Early detection is key for management.
SS18L1 Gene Amyotrophic Lateral Sclerosis CREST Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SS18L1 gene for mutations associated with Amyotrophic Lateral Sclerosis (ALS) and CREST syndrome. Useful for individuals with relevant symptoms or family history.
DNM1L Gene Encephalopathy Lethal Due to Defective Mitochondrial Peroxisomal Fission Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the DNM1L gene, associated with severe neurological disorders like encephalopathy. Confirm with the laboratory before booking.
CTNNB1 Gene Mental Retardation Autosomal Dominant Type 19 Genetic Test
Genetic test to identify mutations in the CTNNB1 gene associated with neurological disorders and developmental delays. Uses Next-Generation Sequencing (NGS) technology.
TUBB Gene Neurodevelopmental Disorder TUBB Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the TUBB gene associated with neurodevelopmental disorders. Helps understand the genetic basis of conditions like developmental delays and intellectual disabilities.
COL6A3 Gene Ullrich Congenital Muscular Dystrophy Type 1 Genetic Test
Genetic test to detect mutations in the COL6A3 gene associated with Ullrich Congenital Muscular Dystrophy Type 1 (UCMD), a rare muscle disorder.
GYS2 Gene Glycogen Storage Disease Type 0 Genetic Test
Genetic test for Glycogen Storage Disease Type 0, caused by mutations in the GYS2 gene. Uses Next-Generation Sequencing (NGS) to identify genetic variations. Recommended for individuals with symptoms or family history.
SFTPB Gene Surfactant Metabolism Dysfunction Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SFTPB gene for mutations related to surfactant metabolism dysfunction type 1, aiding in the diagnosis of respiratory conditions.
NLRP12 Gene Cold Autoinflammatory Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the NLRP12 gene for mutations associated with cold autoinflammatory syndromes. Helps identify genetic predispositions to these conditions.
GFI1 Gene Neutropenia Nonimmune Chronic Idiopathic of Adults Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GFI1 gene associated with chronic idiopathic neutropenia in adults. Helps understand predisposition to low neutrophil counts and recurrent infections.
KCNQ1 Gene Long QT Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the KCNQ1 gene associated with Long QT Syndrome Type 1, a heart condition affecting electrical activity. Helps assess risk for individuals with symptoms or family history.
INVS Gene Nephronophthisis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the INVS gene associated with nephronophthisis, a rare kidney disorder. Helps in diagnosing kidney dysfunction, especially with a family history.
FREM1 Gene Bifid Nose Genetic Test
Genetic test analyzing the FREM1 gene, associated with dysmorphology features like bifid nose. Provides insights into genetic predispositions.
LBR Gene Pelger-Huet Anomaly Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the LBR gene for mutations associated with Pelger-Huet anomaly, a condition affecting white blood cell shape.
MET Gene Renal Cell Carcinoma Papillary Type 1 Familial Genetic Test
Genetic test to identify MET gene mutations associated with familial papillary type 1 renal cell carcinoma, aiding in risk assessment and personalized care.
Microarray 60K AFCVS Karyotyping FISH Chromosome 21
A genetic test using microarray, karyotyping, and FISH techniques to detect chromosomal abnormalities, particularly focusing on chromosome 21, in prenatal samples like amniotic fluid or chorionic villi.
MMC Maternal Myopathy with Cardiomyopathy Mutation Detection Test
Genetic test to identify mutations linked to maternal myopathy and cardiomyopathy, aiding in early detection and management of heart disease risks, especially during pregnancy.
Hepatitis C Viral RNA PCR Qualitative Test
Detects the presence of the Hepatitis C virus (HCV) in the blood using a highly sensitive PCR method. Essential for diagnosing active infections and guiding treatment.
TRPM7 Gene Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex Susceptibility to Genetic Test
This genetic test assesses susceptibility to Amyotrophic Lateral Sclerosis (ALS), Parkinsonism, and Dementia Complex linked to the TRPM7 gene using Next-Generation Sequencing (NGS). It helps identify genetic predispositions for individuals with a family history of these neurological conditions.
MTTR Gene Encephalomyopathy Mitochondrial MTTR Related Genetic Test
Genetic test analyzing the MTTR gene to help diagnose mitochondrial disorders, particularly encephalomyopathy, which can cause neurological and muscular symptoms. Utilizes Next Generation Sequencing (NGS) technology.
Dock8 Gene Mental Retardation Autosomal Dominant Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the Dock8 gene, associated with certain forms of mental retardation. Helps understand the genetic basis of neurological disorders.
ZNF311 Gene Neurodevelopmental Disorder ZNF311 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ZNF311 gene associated with neurodevelopmental disorders. Helps understand the genetic basis of neurological conditions.
CSTB Gene Unverricht-Lundborg Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CSTB gene associated with Unverricht-Lundborg disease, a rare neurological disorder. Helps in diagnosis and management.
PGAM2 Gene Glycogen Storage Disease Type 10 Genetic Test
The PGAM2 Gene Glycogen Storage Disease Type 10 NGS Genetic DNA Test helps diagnose Glycogen Storage Disease Type 10, a metabolic disorder affecting glycogen metabolism. This test uses Next Generation Sequencing (NGS) technology to identify mutations in the PGAM2 gene.
SFTPC Gene Surfactant Metabolism Dysfunction Type 2 Genetic Test
This genetic test identifies mutations in the SFTPC gene, which can cause surfactant metabolism dysfunction, a condition affecting lung function. It uses Next-Generation Sequencing (NGS) technology.
ENPP1 Gene Cole Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ENPP1 gene associated with Cole disease. Helps identify genetic predispositions for informed health decisions.
G6PC3 Gene Neutropenia Severe Congenital Type 4 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the G6PC3 gene, associated with Severe Congenital Neutropenia Type 4, an autosomal recessive condition. It helps diagnose the cause of low neutrophil counts and guides management.
AKAP9 Gene Long QT Syndrome Type 11 Genetic Test
Genetic test to identify mutations in the AKAP9 gene associated with Long QT Syndrome Type 11, a condition affecting heart rhythm. Recommended for individuals with a family history or symptoms.
NPHP4 Gene Nephronophthisis Type 4 Genetic Test
The NPHP4 Gene Nephronophthisis Type 4 Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the NPHP4 gene, aiding in the diagnosis of nephronophthisis, a genetic condition affecting kidney function.
XPR1 Gene Basal Ganglia Calcification Type 6 Idiopathic Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the XPR1 gene associated with basal ganglia calcification, particularly relevant for individuals with dysmorphology.
DIS3L2 Gene Perlman Syndrome Genetic Test
Genetic test to identify mutations in the DIS3L2 gene, associated with Perlman Syndrome, a condition affecting growth and development. Utilizes Next Generation Sequencing (NGS) technology.
RET Gene RET Selective Sequencing of Exons 5 8 10 11 and 13-16 Genetic Test
This genetic test analyzes specific parts of the RET gene to identify mutations linked to hereditary cancer syndromes like medullary thyroid carcinoma and MEN 2. It helps assess cancer risk and guide treatment.
Microarray 60K AFCVSCB Karyotyping FISH Chromosome 13, 18, 21, X and Y
A comprehensive genetic test using microarray and FISH technology to detect chromosomal abnormalities on chromosomes 13, 18, 21, X, and Y. Useful for prenatal screening and diagnosing genetic conditions.
Neuroviruses Comprehensive Panel Qualitative PCR Test
Detects multiple neuroviruses in cerebrospinal fluid (CSF) using PCR technology to help diagnose neurological conditions. Confirm with the laboratory before booking.
Tsh Newborn Screen Test
The Tsh Newborn Screen Test checks for thyroid function in newborns, crucial for early detection of hypothyroidism and preventing developmental issues.
9Sep Gene Amyotrophy Hereditary Neuralgic Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify predispositions to hereditary neurological disorders like Amyotrophic Lateral Sclerosis (ALS).
Vdac1 Gene Encephalopathy Mitochondrial Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the VDAC1 gene, associated with mitochondrial encephalopathy and neurological disorders.
MEF2C Gene Mental Retardation Autosomal Dominant Type 20 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MEF2C gene, associated with certain neurological disorders and developmental delays. Confirm with the laboratory before booking.
KIF5C Gene Neurodevelopmental Malformation and Microcephaly Genetic Test
This genetic test analyzes the KIF5C gene to identify mutations associated with neurodevelopmental disorders like microcephaly. It helps understand genetic factors contributing to these conditions.
COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test
Genetic test for mutations in the COL12A1 gene associated with Ullrich congenital muscular dystrophy type 2. Helps confirm diagnosis and guide management.
Aldoa Gene Glycogen Storage Disease Type 12 Genetic Test
Genetic test to identify mutations in the ALDOA gene associated with Glycogen Storage Disease Type 12, a metabolic disorder. Helps in diagnosis and management.
ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 Genetic Test
Genetic test to identify mutations in the ABCA3 gene, linked to surfactant metabolism dysfunction and respiratory issues. Utilizes Next-Generation Sequencing (NGS) technology.
NLRC4 Gene Cold Autoinflammatory Syndrome Type 4 Familial Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the NLRC4 gene for mutations associated with Cold Autoinflammatory Syndrome Type 4 (CIAS4), a rare inflammatory condition.
WNT10A Gene Odontoonychodermal Dysplasia Genetic Test
This genetic test identifies mutations in the WNT10A gene associated with odontoonychodermal dysplasia, a condition affecting teeth, skin, and nails. Utilizes Next Generation Sequencing (NGS) technology.
SCN4B Gene Long QT Syndrome Type 10 Genetic Test
Genetic test for Long QT Syndrome Type 10, analyzing the SCN4B gene using Next Generation Sequencing (NGS) to identify potential heart risks.
NEK8 Gene Nephronophthisis Type 9 Genetic Test
This genetic test identifies mutations in the NEK8 gene, associated with nephronophthisis, a hereditary kidney disorder. It uses Next-Generation Sequencing (NGS) technology.
FLCN Gene BirtHoggDube Syndrome Genetic Test
Genetic test to detect mutations in the FLCN gene associated with Birt-Hogg-Dube syndrome, a condition linked to skin tumors, lung cysts, and kidney cancer risk.
LAMC1 Gene Pelvic Organ Prolapse LAMC1 Related Genetic Test
Genetic test to identify mutations in the LAMC1 gene associated with pelvic organ prolapse. Helps assess individual risk based on genetic factors.
CYLD Gene SpieglerBrooke Syndrome Genetic Test
Genetic test to identify mutations in the CYLD gene associated with Spiegler-Brooke syndrome, a condition linked to increased cancer risk. Utilizes Next Generation Sequencing (NGS) technology.
Microarray 60K AFCVSCB
The Microarray 60K AFCVSCB test analyzes chromosomes in amniotic fluid, chorionic villi, or cord blood samples to detect potential genetic abnormalities. This test is often recommended for expectant mothers and individuals with concerns about genetic disorders.
Listeria Monocytogenes RNA Detection Qualitative Test
Detects the presence of Listeria monocytogenes RNA to diagnose Listeriosis, a serious infection. This test uses Real-Time PCR technology and is important for high-risk groups like pregnant women and immunocompromised individuals.
Nras Mutation Codon 12 13 61 Test
The NRAS Mutation Codon 12 13 61 Test identifies specific mutations in the NRAS gene, aiding in cancer diagnosis and personalized treatment planning, particularly for melanoma and colorectal cancer.
Hepatitis D Virus Detection PCR Test
Detects the Hepatitis D virus (HDV) using a sensitive PCR test. Essential for diagnosing HDV, which requires a pre-existing Hepatitis B infection. Crucial for managing liver health.
Chr 15q11 Gene Angelman Syndrome Genetic Test
This genetic test identifies anomalies in the 15q11 chromosome region associated with Angelman Syndrome, a neurological disorder. It uses Next-Generation Sequencing (NGS) to analyze DNA.
Cox10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy Due to Cytochrome C Oxidase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the COX10 gene, associated with specific neurological disorders and kidney function issues.
SETD5 Gene Mental Retardation Autosomal Dominant Type 23 Genetic Test
This genetic test identifies mutations in the SETD5 gene, associated with certain neurological disorders and developmental delays. It uses Next-Generation Sequencing (NGS) technology.
KIF2A Gene Neurodevelopmental Malformation and Microcephaly Genetic Test
This genetic test identifies mutations in the KIF2A gene, which are associated with neurodevelopmental malformations and microcephaly. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis.
UROC1 Gene Urocanase Deficiency Genetic Test
Genetic test to identify mutations in the UROC1 gene, associated with certain neurological disorders. Uses Next Generation Sequencing (NGS) technology.
LDHA Gene Glycogen Storage Disease Type 11 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the LDHA gene associated with Glycogen Storage Disease Type 11, a metabolic disorder. Helps diagnose potential health risks, especially with a family history.
CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 Genetic Test
This genetic test identifies mutations in the CSF2RA gene, which can cause surfactant metabolism dysfunction, a condition affecting lung function. It uses Next Generation Sequencing (NGS) technology.
P4HB Gene Cole-Carpenter Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the P4HB gene associated with Cole-Carpenter syndrome using Next Generation Sequencing (NGS). It helps diagnose genetic predispositions, particularly for individuals with a family history or symptoms of the syndrome.
RAC2 Gene Neutrophil Immunodeficiency Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RAC2 gene, associated with neutrophil immunodeficiency syndrome. Helps diagnose genetic predispositions to immunodeficiency disorders.
SNTA1 Gene Long QT Syndrome Type 12 Genetic Test
This genetic test identifies mutations in the SNTA1 gene associated with Long QT Syndrome Type 12, a condition affecting heart rhythm. It uses Next Generation Sequencing (NGS) technology to help assess risk and guide management.
NPHS1 Gene Nephrosis Finnish Type Genetic Test
Genetic test to identify variations in the NPHS1 gene associated with Finnish-type nephrosis, a kidney disorder. Uses Next-Generation Sequencing (NGS) technology.
BCS1L Gene Bjornstad Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the BCS1L gene associated with Bjornstad syndrome, a condition involving dysmorphic features and hearing loss.
FGFR1 Gene Pfeiffer Syndrome Genetic Test
This genetic test identifies mutations in the FGFR1 gene associated with Pfeiffer syndrome, aiding in diagnosis and management.
JAK2 Gene Thrombocythemia Type 3 Somatic Genetic Test
This genetic test identifies mutations in the JAK2 gene, often linked to blood disorders like thrombocythemia. It helps doctors understand the cause of your condition and plan the best treatment.
Microarray 60K POC
The Microarray 60K POC test analyzes genetic material from products of conception to detect chromosomal abnormalities, aiding in understanding pregnancy complications or genetic concerns.
Oncopro Hereditary Cancer Risk Panel Screens 200 Genes Test
The Oncopro Hereditary Cancer Risk Panel screens 200 genes associated with increased cancer risk. This test is recommended for individuals with a significant family history of cancer to help assess risk and guide prevention strategies.
UBE3A Gene Angelman Syndrome Genetic Test
This genetic test analyzes the UBE3A gene to identify mutations associated with Angelman syndrome, a neurological disorder. It helps diagnose the condition and understand genetic risks.
MTTW Gene Encephalopathy Mitochondrial MTTW Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MTTW gene for mutations associated with mitochondrial disorders, aiding in diagnosis and management.
DEAF1 Gene Mental Retardation Autosomal Dominant Type 24 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DEAF1 gene, associated with certain neurological disorders and developmental delays. Confirm with the laboratory before booking.
TUBG1 Gene Neurodevelopmental Malformation and Microcephaly Genetic Test
The TUBG1 Gene Neurodevelopmental Malformation and Microcephaly Genetic Test identifies mutations in the TUBG1 gene associated with neurological disorders and developmental delays. This test uses Next Generation Sequencing (NGS) technology.
CRB2 Gene Ventriculomegaly with Cystic Kidney Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CRB2 gene associated with ventriculomegaly and cystic kidney disease. Helps assess risk for individuals with relevant family history or symptoms.
ENO3 Gene Glycogen Storage Disease Type 13 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ENO3 gene associated with Glycogen Storage Disease Type 13, a rare metabolic disorder. Helps in diagnosis and management.
CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CSF2RB gene for mutations related to surfactant metabolism dysfunction, a condition affecting lung function. Confirm with the laboratory before booking.
RAG2 Gene Combined Cellular and Humoral Immune Defects with Granulomas Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the RAG2 gene for mutations associated with combined cellular and humoral immune deficiencies and granulomas. Helps diagnose specific immune system disorders.
TRPV3 Gene Olmsted Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TRPV3 gene associated with Olmsted syndrome. Suitable for individuals with symptoms or family history.
KCNJ5 Gene Long QT Syndrome Type 13 Genetic Test
Genetic test to identify mutations in the KCNJ5 gene associated with Long QT Syndrome Type 13, a condition affecting heart rhythm. Confirm with the laboratory before booking.
NPHS2 Gene Nephrotic Syndrome Genetic Test
Genetic test to identify mutations in the NPHS2 gene associated with nephrotic syndrome, particularly relevant for individuals with a family history of the condition.
NOD2 Gene Blau Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the NOD2 gene associated with Blau syndrome. Helps in early diagnosis and personalized management.
FGFR2 Gene Pfeiffer Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FGFR2 gene for mutations associated with Pfeiffer syndrome. Helps in early diagnosis and management.
Srgap1 Gene Thyroid Cancer Type 2 Nonmedullary Susceptibility to Genetic Test
Assess your genetic risk for nonmedullary thyroid cancer linked to the SRGAP1 gene. This test uses Next Generation Sequencing (NGS) to identify potential mutations. Recommended for individuals with a family history of thyroid cancer or related symptoms.
Microarray 60K Peripheral Blood, Cord Blood, Fetal Blood Karyotyping
The Microarray 60K test analyzes blood samples (peripheral, cord, or fetal) to detect chromosomal abnormalities, providing crucial genetic insights for expectant parents and individuals with genetic concerns.
MTB Complex RNA Detection Qualitative Test
Detects the presence of Mycobacterium tuberculosis complex RNA using Real Time PCR. This test aids in the early diagnosis of tuberculosis (TB).
Chromosomal Microarray CMA 750K High Resolution Test
The Chromosomal Microarray (CMA) 750K High Resolution Test is an advanced genetic test used to detect subtle chromosomal abnormalities associated with developmental delays, intellectual disabilities, and congenital anomalies. It offers a detailed analysis of genetic makeup.
CDKL5 Gene Angelmanlike Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CDKL5 gene, associated with Angelman-like syndrome and other neurological disorders. Helps diagnose conditions causing developmental delays, speech impairments, and motor dysfunction.
MECP2 Gene Encephalopathy Neonatal Severe Genetic Test
This genetic test identifies mutations in the MECP2 gene, associated with severe neurological disorders in newborns. It uses Next-Generation Sequencing (NGS) for accurate diagnosis.
AHDC1 Gene Mental Retardation Autosomal Dominant Type 25 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the AHDC1 gene, aiding in the diagnosis of specific neurological disorders associated with cognitive impairment and developmental delays.
DES Gene Neurogenic Scapuloperoneal Syndrome Kaeser Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DES gene for mutations associated with Neurogenic Scapuloperoneal Syndrome Kaeser Type. Helps in diagnosing neurological disorders and guiding treatment.
TTPA Gene Vitamin E Familial Deficiency Genetic Test
Genetic test to identify mutations in the TTPA gene associated with Vitamin E deficiency and related neurological disorders. Uses Next Generation Sequencing (NGS) technology.
PGM1 Gene Glycogen Storage Disease Type 14 Genetic Test
Genetic test to identify mutations in the PGM1 gene associated with Glycogen Storage Disease Type 14, a rare metabolic disorder. Helps in early diagnosis and management.
ABCA1 Gene Tangier Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ABCA1 gene associated with Tangier disease, a rare disorder affecting cholesterol levels. Confirm with the laboratory before booking.
RAG2 Gene Combined Immunodeficiency B Cell-Negative T Cell-Negative NK Cell-Positive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the RAG2 gene for specific combined immunodeficiency markers (B cell-Negative, T cell-Negative, NK cell-Positive). Helps diagnose genetic immunodeficiencies.
DCLRE1C Gene Omenn Syndrome Genetic Test
This genetic test identifies mutations in the DCLRE1C gene associated with Omenn syndrome, a rare immunodeficiency disorder. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis.
Calm2 Gene Long QT Syndrome Type 15 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CALM2 gene associated with Long QT Syndrome Type 15, a condition affecting heart rhythm. Confirm with the laboratory before booking.
NPHS1 Gene Nephrotic Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the NPHS1 gene associated with Nephrotic Syndrome Type 2. Helps understand genetic predisposition to kidney disorders.
GDF5 Gene Brachydactyly Type A1C Genetic Test
This genetic test analyzes the GDF5 gene to identify mutations associated with brachydactyly type A1C, a condition causing shortened fingers and toes. It uses Next-Generation Sequencing (NGS) technology.
Chr 22q133 Gene Phelan-McDermid Syndrome Genetic Test
This genetic test identifies abnormalities in the 22q13.3 chromosomal region associated with Phelan-McDermid syndrome, a condition often linked to developmental delays and intellectual disabilities. It uses Next Generation Sequencing (NGS) technology.
CYLD Gene Trichoepithelioma Multiple Familial Type 1 Genetic Test
Genetic test for mutations in the CYLD gene associated with Multiple Familial Trichoepithelioma. Helps identify individuals at risk due to family history.
Microarray 60K POC Single Karyotying
The Microarray 60K POC Single Karyotying test analyzes chromosomes to detect abnormalities, aiding in the diagnosis of genetic conditions related to infertility, miscarriages, or congenital anomalies.
MTB Complex Bacterial Load Test
Detects and quantifies bacterial infections in various bodily fluids using Real Time PCR technology. Helps guide treatment decisions for patients with infection symptoms.
Hepatitis G Virus HGV RNA Detection PCR Test
Detect the presence of Hepatitis G Virus (HGV) RNA in your blood using a sensitive PCR test. This test aids in diagnosing liver disorders. Confirm with the laboratory before booking.
MECP2 Gene Angelmanlike Syndrome Genetic Test
This genetic test identifies mutations in the MECP2 gene, which are associated with neurological disorders like Angelman-like syndrome. It uses Next Generation Sequencing (NGS) technology for accurate results.
SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SLC19A3 gene associated with thiamine-responsive neurological disorders. Helps identify individuals who may benefit from thiamine treatment.
ADNP Gene Mental Retardation Autosomal Dominant Type 28 Genetic Test
Genetic test to identify mutations in the ADNP gene associated with intellectual disabilities and neurodevelopmental disorders.
HINT1 Gene Neuromyotonia and Axonal Neuropathy Autosomal Recessive Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the HINT1 gene for mutations associated with neuromyotonia and axonal neuropathy. Helps identify genetic predispositions to these neurological disorders.
SNAI2 Gene Waardenburg Syndrome Type 2D Genetic Test
Genetic test to identify mutations in the SNAI2 gene associated with Waardenburg syndrome type 2D, a condition linked to hearing loss, pigmentation changes, and neurological disorders.
Gyg1 Gene Glycogen Storage Disease Type 15 Genetic Test
This genetic test identifies mutations in the GYG1 gene associated with Glycogen Storage Disease Type 15, a metabolic disorder. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis.
HEXA Gene TaySachs Disease Genetic Test
The HEXA Gene TaySachs Disease NGS Genetic DNA Test identifies genetic mutations linked to Tay-Sachs disease, a severe inherited metabolic disorder. This test helps determine carrier status and informs reproductive choices, particularly for families with a history of the condition.
IL2RG Gene Combined Immunodeficiency X-Linked Moderate Genetic Test
Genetic test to identify mutations in the IL2RG gene associated with X-linked severe combined immunodeficiency (X-SCID), aiding in early diagnosis and management.
Rag2 Gene Omenn Syndrome Genetic Test
The Rag2 Gene Omenn Syndrome NGS Genetic DNA Test analyzes the RAG2 gene to identify mutations linked to Omenn syndrome and other immunological disorders. This test helps assess risk and inform management.
SCN5A Gene Long QT Syndrome Type 3 Genetic Test
This genetic test identifies mutations in the SCN5A gene associated with Long QT Syndrome Type 3, a condition that can cause serious heart rhythm problems. Understanding your genetic risk is key for managing cardiovascular health.
LAMB2 Gene Nephrotic Syndrome Type 5 Genetic Test
Genetic test to identify mutations in the LAMB2 gene associated with Nephrotic Syndrome Type 5. Uses Next-Generation Sequencing (NGS) technology.
ASXL1 Gene Bohring-Opitz Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ASXL1 gene for mutations associated with Bohring-Opitz syndrome. Recommended for children with specific developmental or physical features.
NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NRXN1 gene associated with Pitt-Hopkins syndrome. This test helps diagnose the condition, characterized by developmental delays and distinct facial features.
BAP1 Gene Tumor Predisposition Syndrome Genetic Test
The BAP1 Gene Tumor Predisposition Syndrome NGS Genetic DNA Test identifies genetic mutations in the BAP1 gene, which can increase the risk of developing certain cancers like melanoma and mesothelioma. This test uses advanced Next-Generation Sequencing (NGS) technology.
Microarray 60K POC Couple Karyotyping
Genetic analysis for couples planning a family to detect chromosomal abnormalities and inform family planning decisions.
Aldolase Test
The Aldolase Test measures the level of the enzyme aldolase in your blood. It helps diagnose conditions affecting muscles and the liver. Confirm with the laboratory before booking.
Hepatitis E Virus HEV Quantitative PCR Test
Detects and quantifies the Hepatitis E virus (HEV) in the blood to help diagnose and monitor Hepatitis E infections. Provides information on viral load for assessing infection severity.
PRPS1 Gene Arts Syndrome Genetic Test
A genetic test using Next Generation Sequencing (NGS) to detect mutations in the PRPS1 gene, associated with neurological disorders like Arts syndrome. Confirm with the laboratory before booking.
RANBP2 Gene Encephalopathy Acute Necrotizing Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RANBP2 gene associated with acute necrotizing encephalopathy, a severe neurological disorder. Confirm with the laboratory before booking.
SOX11 Gene Mental Retardation Autosomal Dominant Type 27 Genetic Test
The SOX11 Gene Mental Retardation Autosomal Dominant Type 27 NGS Genetic DNA Test identifies genetic mutations in the SOX11 gene associated with certain neurological disorders and cognitive impairments. This test uses Next Generation Sequencing (NGS) technology.
EOMES Gene Neuronal Migration Disorder Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the EOMES gene associated with neuronal migration disorders. Helps understand the cause of neurological conditions.
EDNRB Gene Waardenburg Syndrome/Hirschsprung Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EDNRB gene associated with Waardenburg syndrome and Hirschsprung disease. Helps in diagnosing conditions linked to neurological and developmental issues.
G6PC Gene Glycogen Storage Disease Type 1A Genetic Test
This genetic test identifies mutations in the G6PC gene associated with Glycogen Storage Disease Type 1A, a metabolic disorder. It uses Next Generation Sequencing (NGS) technology.
TPK1 Gene Thiamine Metabolism Dysfunction Syndrome Type 5 Genetic Test
Genetic test to identify mutations in the TPK1 gene, associated with thiamine metabolism dysfunction. Uses Next Generation Sequencing (NGS) technology.
FBN2 Gene Contractural Arachnodactyly Congenital Genetic Test
This genetic test identifies mutations in the FBN2 gene associated with contractural arachnodactyly, a condition affecting connective tissues. It aids in diagnosis and management.
INPPL1 Gene Opsismodysplasia Genetic Test
This genetic test analyzes the INPPL1 gene using Next Generation Sequencing (NGS) to identify mutations associated with Opsismodysplasia, a rare skeletal dysplasia disorder. It helps understand potential health risks and guide medical care.
KCNH2 Gene Long QT Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the KCNH2 gene associated with Long QT Syndrome Type 2, a condition that can cause serious heart rhythm problems. Recommended for individuals with a family history of the condition or related symptoms.
DGKE Gene Nephrotic Syndrome Type 7 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DGKE gene for mutations associated with Nephrotic Syndrome Type 7. Helps identify genetic predisposition and guide management.
BMP2 Gene Brachydactyly Type A2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the BMP2 gene associated with Brachydactyly Type A2, a condition affecting finger and toe development.
TCF4 Gene Pitt-Hopkins Syndrome Genetic Test
Genetic test to identify mutations in the TCF4 gene associated with Pitt-Hopkins syndrome, a rare developmental disorder. Utilizes Next-Generation Sequencing (NGS) technology.
RHBDF2 Gene Tylosis With Esophageal Cancer Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RHBDF2 gene associated with an increased risk of esophageal cancer. Recommended for individuals with a family history of the condition.
Microarray 750K AFCVSCBPOCPB
The Microarray 750K AFCVSCBPOCPB test is a genetic diagnostic tool used to detect chromosomal abnormalities in fetal or other genetic material. It provides valuable insights for expectant mothers and individuals with genetic concerns.
MTB Complex MOTT RNA Detection Qualitative Test
Detects RNA from Mycobacterium tuberculosis and non-tuberculous mycobacteria (NTM) using Real-Time PCR for rapid diagnosis of related infections.
NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 Genetic Test
Genetic test analyzing the NLGN3 gene to assess susceptibility to Asperger syndrome, a neurological disorder. Uses NGS technology for accurate results.
TRAF3 Gene Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility to Type 5 Genetic Test
Genetic test to assess susceptibility to specific neurological disorders linked to the TRAF3 gene, particularly those triggered by herpes infections. Uses Next-Generation Sequencing (NGS).
CDH15 Gene Mental Retardation Autosomal Dominant Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CDH15 gene, associated with certain types of intellectual disability and neurological disorders. Helps identify genetic causes for informed medical decisions.
Ctnna2 Gene Neuronal Migration Disorder Genetic Test
The CTNNA2 Gene Neuronal Migration Disorder test identifies mutations in the CTNNA2 gene, linked to certain neurological conditions. This genetic test uses Next Generation Sequencing (NGS) technology.
Fktn Gene Walker-Warburg Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FKTN gene, aiding in the diagnosis of Walker-Warburg syndrome, a severe neurological disorder.
GAA Gene Glycogen Storage Disease Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GAA gene associated with Glycogen Storage Disease Type 2 (Pompe disease). Helps diagnose individuals with symptoms or a family history of the condition.
GM2A Gene TaySachs Disease AB Variant Genetic Test
This genetic test identifies mutations in the GM2A gene associated with Tay-Sachs disease, a serious neurodegenerative disorder. It is recommended for individuals with a family history or those at higher risk.
NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the NIPBL gene associated with Cornelia de Lange Syndrome (CdLS).
GPC6 Gene Omodysplasia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GPC6 gene associated with Omodysplasia Type 1. Helps in diagnosis and management.
ANK2 Gene Long QT Syndrome Type 4 Genetic Test
Genetic test to identify mutations in the ANK2 gene associated with Long QT Syndrome Type 4, a heart rhythm disorder. Useful for individuals with a family history of heart conditions.
ARHGDIA Gene Nephrotic Syndrome Type 8 Genetic Test
This genetic test identifies mutations in the ARHGDIA gene associated with Nephrotic Syndrome Type 8, a kidney disorder. It helps understand genetic risk and guides management.
ROR2 Gene Brachydactyly Type B1 Genetic Test
This genetic test identifies mutations in the ROR2 gene associated with brachydactyly (shortened fingers/toes). It uses Next Generation Sequencing (NGS) to help understand genetic conditions affecting limb development.
POU1F1 Gene Pituitary Hormone Deficiency Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the POU1F1 gene, aiding in the diagnosis of pituitary hormone deficiencies.
ARL11 Gene Tumor Predisposition Syndrome ARL11 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ARL11 gene for mutations associated with increased cancer risk. Recommended for individuals with a family history of cancer.
Microarray 750K Single Karyotyping AFCVSCBPOCPB
The Microarray 750K Single Karyotyping test is a genetic analysis to identify chromosomal abnormalities, crucial for prenatal screening and diagnosing genetic disorders.
Chromosome Analysis Products of Conception Reflex Testing to FISH for Aneuploidy Detection Test
This genetic test analyzes products of conception to detect chromosomal abnormalities like aneuploidy, which can contribute to pregnancy loss. It uses advanced techniques including FISH.
Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test
This test helps diagnose Prader-Willi Syndrome (PWS), a genetic disorder, by detecting specific methylation changes in associated genes. Early diagnosis is key for management.
Cox20 Gene Ataxia and Muscle Hypotonia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the Cox20 gene for mutations associated with ataxia and muscle hypotonia. Helps diagnose neurological disorders and guide treatment.
SERPINI1 Gene Encephalopathy Familial With Neuroserpin Inclusion Bodies Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SERPINI1 gene, associated with familial encephalopathy with neuroserpin inclusion bodies. Helps in diagnosing and managing this neurological condition.
KAT6A Gene Mental Retardation Autosomal Dominant Type 32 Genetic Test
The KAT6A Gene Mental Retardation Autosomal Dominant Type 32 NGS Genetic DNA Test identifies mutations in the KAT6A gene associated with neurological disorders and developmental delays. This test uses Next-Generation Sequencing (NGS) technology.
SPTBN5 Gene Neuronal Migration Disorder Genetic Test
Genetic test analysing the SPTBN5 gene to help diagnose neurological disorders related to neuronal migration. Utilises Next-Generation Sequencing (NGS) technology.
CRPPA Gene Walker-Warburg Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CRPPA gene associated with Walker-Warburg syndrome, a severe neurological disorder.
AGL Gene Glycogen Storage Disease Type 3 Genetic Test
Genetic test for Glycogen Storage Disease Type 3 (GSD III), a metabolic disorder. Uses Next Generation Sequencing (NGS) to analyze the AGL gene. Confirm with the laboratory before booking.
TJP1 Gene TJP1 Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TJP1 gene associated with TJP1 deficiency, a rare metabolic disorder. Early diagnosis aids in management and treatment.
SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test
Genetic test analyzing the SMC1A gene to help diagnose Cornelia de Lange Syndrome Type 2, a condition affecting development and growth. Uses Next Generation Sequencing (NGS) technology.
GNAS Gene Osseous Heteroplasia Progressive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the GNAS gene for mutations related to osseous heteroplasia and other conditions affecting bone and skin development.
KCNE1 Gene Long QT Syndrome Type 5 Genetic Test
Genetic test to identify mutations in the KCNE1 gene associated with Long QT Syndrome Type 5, a heart condition affecting electrical signaling. Uses Next Generation Sequencing (NGS).
COQ8B Gene Nephrotic Syndrome Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the COQ8B gene associated with Nephrotic Syndrome Type 9, a kidney disorder. Helps understand the genetic basis for informed healthcare decisions.
BMPR1B Gene Brachydactyly Type A2 Genetic Test
Genetic test to identify mutations in the BMPR1B gene associated with Brachydactyly type A2, a condition causing shortened fingers and toes. Helps understand genetic risks.
PROP1 Gene Pituitary Hormone Deficiency Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PROP1 gene, associated with pituitary hormone deficiencies. Helps diagnose conditions related to pituitary dysfunction.
VHL Gene Von Hippel-Lindau Syndrome Genetic Test
The VHL Gene Von Hippel-Lindau Syndrome NGS Genetic DNA Test identifies mutations in the VHL gene, linked to an increased risk of certain cancers. This test uses Next-Generation Sequencing (NGS) for accurate results.
Microcephaly Gene Panel
The Microcephaly Gene Panel is a genetic test to identify potential genetic causes of microcephaly, a condition where a baby's head is smaller than expected. This test helps understand underlying factors contributing to developmental delays.
MRE11 Gene Ataxia Telangiectasia Like Disorder Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MRE11 gene associated with Ataxia Telangiectasia-like disorders. Helps diagnose neurological conditions.
COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test
This genetic test identifies mutations in the COLQ gene, which can cause specific neuromuscular disorders. It uses Next Generation Sequencing (NGS) technology to provide accurate results for individuals experiencing muscle weakness or respiratory issues.
PURA Gene Mental Retardation Autosomal Dominant Type 31 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PURA gene associated with certain neurological disorders and mental retardation. Confirm with the laboratory before booking.
Srgap2 Gene Neuronal Migration Disorder Genetic Test
This genetic test analyzes the SRGAP2 gene to identify mutations associated with neuronal migration disorders. It helps in diagnosing neurological conditions and guiding management.
FKRP Gene Walker-Warburg Syndrome or Muscle-Eye-Brain Disease FKRP Related Genetic Test
Genetic test analyzing the FKRP gene to help diagnose Walker-Warburg Syndrome or related Muscle-Eye-Brain Disease. Recommended for individuals with symptoms or family history of these neurological conditions.
Gbe1 Gene Glycogen Storage Disease Type 4 Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to detect mutations in the GBE1 gene, aiding in the diagnosis of Glycogen Storage Disease Type 4, a rare metabolic disorder. Confirm with the laboratory before booking.
TPMT Gene TPMT Deficiency Genetic Test
The TPMT Gene Deficiency test assesses genetic variations affecting thiopurine drug metabolism. This helps guide safe and effective treatment for conditions like autoimmune diseases and certain cancers, reducing the risk of adverse drug reactions.
SMC3 Gene Cornelia De Lange Syndrome Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SMC3 gene associated with Cornelia De Lange Syndrome Type 3. Helps in diagnosis and family planning.
COL2A1 Gene Osteoarthritis With Mild Chondrodysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the COL2A1 gene associated with osteoarthritis and mild chondrodysplasia. Helps assess genetic risk.
KCNE2 Gene Long QT Syndrome Type 6 Genetic Test
Genetic test for mutations in the KCNE2 gene associated with Long QT Syndrome Type 6, using Next Generation Sequencing (NGS).
MC4R Gene Obesity Genetic Test
Genetic test analyzing the MC4R gene to understand individual predisposition to obesity. Helps guide personalized weight management strategies.
Hoxd13 Gene Brachydactyly Type E1 Genetic Test
This genetic test identifies mutations in the HOXD13 gene associated with brachydactyly type E1, a condition causing shortened fingers and toes. It is useful for individuals with a family history or symptoms of the condition.
COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the COL2A1 gene, aiding in the diagnosis of specific skeletal dysplasias like Platyspondylic Skeletal Dysplasia, Torrance type. Recommended for individuals with symptoms or family history.
Microsatellite Instability Lynch Syndrome Colorectal Cancer
This genetic test helps identify individuals at higher risk for colorectal cancer due to Lynch syndrome, a hereditary condition. It detects changes in DNA that indicate a potential predisposition.
Malaria Multiplex P Falciparum P Vivax P Ovale and P Malariae Multiplex Detection Differentiation RNA Detection Qualitative Test
This test detects and differentiates between four types of malaria parasites (P. Falciparum, P. Vivax, P. Ovale, P. Malariae) using RNA detection. It helps identify the specific malaria species causing infection for accurate diagnosis and treatment.
Chromosome Xon Microarray High Resolution Test
The Chromosome Xon Microarray High Resolution Test is a genetic test used to detect chromosomal abnormalities associated with genetic disorders. It provides a detailed analysis of the genome to identify variations that may cause developmental delays, intellectual disabilities, or other genetic conditions.
DNAJC3 Gene Ataxia Combined Cerebellar and Peripheral with Hearing Loss and Diabetes Mellitus Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DNAJC3 gene associated with combined cerebellar and peripheral ataxia, hearing loss, and diabetes mellitus. Confirm with the laboratory before booking.
BSCL2 Gene Encephalopathy Progressive With Or Without Lipodystrophy Genetic Test
Genetic test for BSCL2 gene mutations associated with progressive encephalopathy and lipodystrophy. Helps diagnose neurological disorders and inform treatment.
Pogz Gene Mental Retardation Autosomal Dominant Type 37 Genetic Test
Genetic test to identify mutations in the Pogz gene associated with a specific type of autosomal dominant mental retardation. Utilizes Next-Generation Sequencing (NGS) technology.
HSPB8 Gene Neuronopathy Distal Hereditary Motor Type 2A Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HSPB8 gene, associated with Distal Hereditary Motor Neuronopathy Type 2A. Helps diagnose hereditary motor neuron diseases.
WDR27 Gene WDR27-Related Brain Disorders Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the WDR27 gene for variations linked to neurological disorders. Helps understand causes of symptoms and guide treatment.
PYGM Gene Glycogen Storage Disease Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PYGM gene associated with Glycogen Storage Disease Type 5 (GSD5). Helps diagnose metabolic disorders.
TALDO1 Gene Transaldolase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TALDO1 gene, aiding in the diagnosis of transaldolase deficiency, a metabolic disorder.
RAD21 Gene Cornelia De Lange Syndrome Type 4 Genetic Test
Genetic test analyzing the RAD21 gene to help diagnose Cornelia de Lange Syndrome Type 4, a complex genetic disorder.
CSF1 Gene Osteogenesis and Dental Anomalies CSF1 Related Genetic Test
This genetic test analyzes the CSF1 gene to identify variations linked to osteogenesis and dental anomalies, aiding in the diagnosis and management of related conditions.
CAV3 Gene Long QT Syndrome Type 9 Genetic Test
Genetic test analyzing the CAV3 gene to identify mutations associated with Long QT Syndrome Type 9, a heart rhythm disorder. Helps assess risk and guide management.
LEP Gene Obesity Due to Leptin Deficiency Genetic Test
Genetic test to identify mutations in the LEP gene associated with leptin deficiency, a potential cause of severe obesity. Uses Next Generation Sequencing (NGS).
HDAC4 Gene Brachydactyly Mental Retardation Syndrome Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to analyze the HDAC4 gene, helping to identify mutations associated with Brachydactyly and mental retardation syndrome. It aids in diagnosing developmental disorders affecting skeletal and cognitive development.
STRADA Gene Polyhydramnios Megalencephaly and Symptomatic Epilepsy Genetic Test
Genetic test analyzing the STRADA gene to identify mutations linked to polyhydramnios, megalencephaly, and symptomatic epilepsy. Provides insights for diagnosis and management.
5-Fluorouracil 5FU Toxicity and Chemotherapeutic Response DPYD Variants
This genetic test assesses variants in the DPYD gene to help guide 5-Fluorouracil (5-FU) chemotherapy dosage, potentially reducing toxicity and improving treatment effectiveness.
MLC1 Gene Mutation Analysis Agrawal Mutation
The MLC1 Gene Mutation Analysis (Agrawal Mutation) is a genetic test to identify specific mutations in the MLC1 gene, which can be associated with certain neurological conditions. This test helps assess risk and inform health decisions.
RGS9BP Gene Bradyopsia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RGS9BP gene associated with Bradyopsia, a condition affecting vision, particularly in low light. Confirm with the laboratory before booking.
Everolimus Test
Monitor Everolimus levels in transplant patients to ensure effective drug dosing and prevent organ rejection. Confirm with the laboratory before booking.
Typhoid DNA Detection Test
Detects the DNA of Salmonella Typhi, the bacteria causing typhoid fever, using advanced PCR technology for accurate diagnosis.
MTTV Gene Ataxia Progressive Seizures Mental Deterioration and Hearing Loss MTTV Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MTTV gene associated with progressive ataxia, seizures, mental deterioration, and hearing loss. Confirm with the laboratory before booking.
Plec Gene Epidermolysis Bullosa Simplex With Muscular Dystrophy Genetic Test
Genetic test to identify mutations in the PLEC gene associated with Epidermolysis Bullosa Simplex and Muscular Dystrophy using Next-Generation Sequencing (NGS).
EEF1A2 Gene Mental Retardation Autosomal Dominant Type 38 Genetic Test
This genetic test identifies mutations in the EEF1A2 gene, which are associated with a specific type of inherited intellectual disability. It uses advanced sequencing technology to provide detailed genetic information.
GARS1 Gene Neuronopathy Distal Hereditary Motor Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GARS1 gene associated with Distal Hereditary Motor Neuronopathy Type 5. Helps in diagnosing and managing hereditary motor neuron diseases.
RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the RAB3GAP1 gene associated with Warburg Micro Syndrome Type 1. Uses Next Generation Sequencing (NGS) for accurate diagnosis.
PFKM Gene Glycogen Storage Disease Type 7 Genetic Test
Genetic test to identify mutations in the PFKM gene, helping diagnose Glycogen Storage Disease Type 7 (GSD7), a metabolic disorder affecting carbohydrate metabolism. Recommended for individuals with symptoms like muscle weakness or exercise intolerance.
HADHA Gene Trifunctional Protein Deficiency Genetic Test
Genetic test to identify mutations in the HADHA gene, associated with trifunctional protein deficiency, a metabolic disorder affecting fat metabolism. Helps in early detection and management.
HDAC8 Gene Cornelia de Lange Syndrome Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HDAC8 gene associated with Cornelia de Lange syndrome Type 5. Aids in early diagnosis and management.
CREB3L1 Gene Osteogenesis Disorders CREB3L1 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CREB3L1 gene, associated with certain osteogenesis disorders (bone development conditions).
CACNA1C Gene Long QT Syndrome Type 8 Genetic Test
Genetic test for mutations in the CACNA1C gene associated with Long QT Syndrome Type 8, a heart condition. Helps identify risk and guide management.
POMC Gene Obesity with Adrenal Insufficiency and Red Hair Genetic Test
Genetic test analyzing the POMC gene to understand its link to obesity, adrenal insufficiency, and red hair. Uses Next Generation Sequencing (NGS) technology.
Hoxd13 Gene Brachydactyly-Syndactyly Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the Hoxd13 gene associated with brachydactyly and syndactyly syndromes, aiding in the diagnosis of congenital limb malformations.
TUBB2B Gene Polymicrogyria Asymmetric Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the TUBB2B gene for mutations associated with polymicrogyria and related neurological conditions.
AAAS Full Gene Sequence Analysis Allogrove Syndrome
Comprehensive genetic testing for Allogrove Syndrome, analyzing the AAAS gene to identify mutations associated with the condition. Essential for diagnosis and management.
Malaria P. Falciparum & P. Vivax Multiplex Detection Differentiation RNA Detection Qualitative Test
Accurately diagnose malaria infections caused by Plasmodium falciparum and Plasmodium vivax using advanced RNA detection technology. This test helps guide appropriate treatment.
Neuromuscular Panel Genetic Test
The Neuromuscular Panel NGS Genetic DNA Test uses advanced sequencing technology to identify genetic mutations linked to various neuromuscular disorders, aiding in diagnosis and management.
Alkaptonuria Urine Qualitative Test
A urine test to detect homogentisic acid, helping diagnose Alkaptonuria, a rare metabolic disorder. Early detection aids in managing symptoms.
FLVCR1 Gene Ataxia Posterior Column with Retinitis Pigmentosa Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FLVCR1 gene associated with ataxia and retinitis pigmentosa. Helps diagnose and understand neurological conditions.
DST Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DST gene associated with Epidermolysis Bullosa Simplex Autosomal Recessive Type 2, a condition causing fragile skin.
DYRK1A Gene Mental Retardation Autosomal Dominant Type 7 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DYRK1A gene, associated with certain types of developmental delays and intellectual disability. Confirm with the laboratory before booking.
HSPB1 Gene Neuronopathy Distal Hereditary Motor Type 2B Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HSPB1 gene associated with Distal Hereditary Motor Neuronopathy Type 2B.
LAS1L Gene WilsonTurner Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LAS1L gene associated with Wilson-Turner syndrome, a rare neurological disorder. Confirm with the laboratory before booking.
PYGL Gene Glycogen Storage Disease Type 6B Genetic Test
Genetic test to identify mutations in the PYGL gene associated with Glycogen Storage Disease Type 6B, a metabolic disorder. Helps in diagnosis and management.
TCN2 Gene Transcobalamin II Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TCN2 gene, which can cause Transcobalamin II deficiency, a metabolic disorder affecting Vitamin B12 transport. Confirm with the laboratory before booking.
FGFR2 Gene Craniofacial-Skeletal-Dermatologic Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FGFR2 gene for mutations associated with craniofacial, skeletal, and dermatologic conditions. Helps diagnose genetic disorders and guide treatment.
COL1A1 Gene Osteogenesis Imperfecta Genetic Test
This genetic test identifies mutations in the COL1A1 gene, which are associated with Osteogenesis Imperfecta (OI), also known as brittle bone disease. It uses Next Generation Sequencing (NGS) technology to help diagnose OI, particularly in individuals with a family history or symptoms of bone fragility.
FBN1 Gene Marfan Syndrome Genetic Test
Genetic test to identify mutations in the FBN1 gene associated with Marfan syndrome, a disorder affecting connective tissues. Recommended for individuals with a family history or symptoms.
PCSK1 Gene Obesity with Impaired Prohormone Processing Genetic Test
Understand your genetic predisposition to obesity with the PCSK1 Gene Obesity with Impaired Prohormone Processing NGS Genetic DNA Test. This test analyzes the PCSK1 gene to identify variations linked to weight regulation and metabolic disorders.
TFAP2A Gene Branchiooculofacial Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TFAP2A gene associated with Branchiooculofacial syndrome. Helps in diagnosis and understanding related risks.
ADGRG1 Gene Polymicrogyria Bilateral Frontoparietal Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ADGRG1 gene, associated with polymicrogyria and related neurological conditions. Helps diagnose genetic disorders.
Achondroplasia FGFR3 Full Gene Sequence Analysis
The Achondroplasia FGFR3 Full Gene Sequence Analysis is a genetic test that identifies mutations in the FGFR3 gene, the most common cause of achondroplasia, a form of dwarfism. This test helps understand genetic risks and aids in family planning.
Malassezia Species RNA Detection Qualitative Test
Detects Malassezia species RNA in skin samples to help diagnose fungal infections associated with skin lesions like erosive, erythematous, and lichenoid conditions. Uses Real Time PCR technology.
GFAP Gene Alexander Disease Genetic Test
Genetic test to identify mutations in the GFAP gene associated with Alexander disease, a rare neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
Alkaptonuria Urine Quantitative Test
Measures homogentisic acid levels in urine to help diagnose Alkaptonuria, a rare genetic metabolic disorder. Confirm with the laboratory before booking.
Preimplantation Genetic Screening PGS Test
Preimplantation Genetic Screening (PGS) helps identify genetic abnormalities in embryos during IVF, increasing the chances of a healthy pregnancy. Available across Kenya.
Rnf170 Gene Ataxia Sensory Type 1 Autosomal Dominant Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RNF170 gene associated with sensory ataxia. Helps diagnose genetic predisposition to neurological disorders.
GRIN2A Gene Epilepsy with Neurodevelopmental Defects Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GRIN2A gene, associated with epilepsy and neurodevelopmental defects. Aids in diagnosis and treatment planning.
GRIN2B Gene Mental Retardation Autosomal Dominant Type 6 Genetic Test
This genetic test identifies mutations in the GRIN2B gene, associated with certain neurological disorders and developmental delays. It uses Next Generation Sequencing (NGS) technology for accurate analysis.
IGHMBP2 Gene Neuronopathy Distal Hereditary Motor Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the IGHMBP2 gene, associated with distal hereditary motor neuron diseases. Helps diagnose and manage neurological conditions.
ZC4H2 Gene Wieacker-Wolff Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ZC4H2 gene associated with Wieacker-Wolff syndrome, a rare neurological disorder.
PHKA2 Gene Glycogen Storage Disease Type 9A Genetic Test
Genetic test to identify mutations in the PHKA2 gene associated with Glycogen Storage Disease Type 9A (GSD9A), a metabolic disorder. Utilizes Next Generation Sequencing (NGS) technology.
TPI1 Gene Triosephosphate Isomerase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TPI1 gene, associated with Triosephosphate Isomerase Deficiency, a metabolic disorder. Confirm with the laboratory before booking.
FGFR3 Gene Crouzon Syndrome with Acanthosis Nigricans Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the FGFR3 gene, associated with Crouzon syndrome and related conditions. Helps in diagnosis and understanding genetic risks.
COL1A2 Gene Osteogenesis Imperfecta Genetic Test
Genetic test for mutations in the COL1A2 gene, used to help diagnose Osteogenesis Imperfecta (brittle bone disease). Uses Next Generation Sequencing (NGS) technology.
FBN1 Gene MASS Syndrome Genetic Test
Genetic test to identify mutations in the FBN1 gene associated with cardiovascular conditions. Helps assess risk for individuals with a family history or symptoms.
POMC Gene Obesity Early-Onset Susceptibility to Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the POMC gene associated with early-onset obesity. Helps understand genetic risk factors for obesity.
CD96 Gene C Syndrome Genetic Test
The CD96 Gene C Syndrome NGS Genetic DNA Test identifies genetic predispositions linked to Dysmorphology conditions using advanced Next-Generation Sequencing (NGS) technology. Recommended for individuals with relevant family history or symptoms.
PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PI4KA gene associated with polymicrogyria, cerebellar hypoplasia, and arthrogryposis. Helps diagnose complex genetic conditions.
Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C
Genetic test to identify specific mutations (G1138A, G1138C) in the FGFR3 gene associated with achondroplasia, a common form of dwarfism. Helps confirm diagnosis and inform management.
Mll T411q21q23 Qualitative
The Mll T411q21q23 Qualitative test detects specific genetic changes linked to certain types of leukemia, aiding in diagnosis and treatment planning.
VPS54 Gene Amyotrophic Lateral Sclerosis VPS54 Related Genetic Test
This genetic test analyzes the VPS54 gene to identify mutations associated with Amyotrophic Lateral Sclerosis (ALS). It uses Next Generation Sequencing (NGS) technology to provide insights into potential genetic risks for this neurological disorder.
Alpha-1 Antitrypsin Quantitation (AAT) Test
The Alpha-1 Antitrypsin Quantitation (AAT) Test measures the level of the alpha-1 antitrypsin protein in your blood. This test helps identify potential genetic disorders affecting the lungs and liver. Confirm with the laboratory before booking.
Prenatal Diagnosis Panel 1 Chorionic Villus Biopsy Test
Early detection of specific genetic disorders in a fetus using a Chorionic Villus Biopsy (CVS) sample taken between 10-13 weeks of pregnancy. This test helps identify conditions like Metachromatic Leucodystrophy and Gaucher Disease.
APTX Gene Ataxiaoculomotor Apraxia Type 1 Genetic Test
Genetic test to identify mutations in the APTX gene associated with Ataxiaoculomotor Apraxia Type 1, a neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
GABRA1 Gene Epilepsy Childhood Absence Type 4 Susceptibility to Genetic Test
This genetic test analyzes the GABRA1 gene to identify potential susceptibility to childhood absence epilepsy, aiding in diagnosis and management.
GRIN1 Gene Mental Retardation Autosomal Dominant Type 8 Genetic Test
This genetic test analyzes the GRIN1 gene to identify mutations associated with neurological disorders and developmental delays, using Next-Generation Sequencing (NGS) technology.
DCTN1 Gene Neuronopathy Distal Hereditary Motor Type 7B Genetic Test
Genetic test to identify mutations in the DCTN1 gene associated with Distal Hereditary Motor Neuronopathy Type 7B, a condition affecting motor function. Utilizes Next Generation Sequencing (NGS) technology.
PEX1 Gene Zellweger Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PEX1 gene associated with Zellweger syndrome, a rare neurological disorder. Early diagnosis aids management.
PHKB Gene Glycogen Storage Disease Type 9B Genetic Test
Genetic test to identify mutations in the PHKB gene associated with Glycogen Storage Disease Type 9B, a metabolic disorder. Aids in diagnosis and management.
FMO3 Gene Trimethylaminuria Genetic Test
Genetic test to identify mutations in the FMO3 gene associated with Trimethylaminuria, a metabolic disorder causing a fishy body odor. Helps in diagnosis and management.
ATR Gene Cutaneous Telangiectasia and Cancer Syndrome Familial Genetic Test
This genetic test analyzes the ATR gene to identify mutations associated with cutaneous telangiectasia and an increased risk of certain cancers. It uses Next Generation Sequencing (NGS) technology.
SerpinH1 Gene Osteogenesis Imperfecta Type 10 Genetic Test
This genetic test identifies mutations in the SERPINH1 gene, associated with Osteogenesis Imperfecta Type 10 (brittle bone disease).
MTTC Gene MELAS Syndrome Genetic Test
Genetic test to identify mutations in the MTTC gene associated with MELAS syndrome, a rare mitochondrial disorder. Helps diagnose unexplained neurological symptoms and muscle weakness.
PPARG Gene Obesity Severe Genetic Test
A genetic test analyzing the PPARG gene to identify potential genetic predispositions contributing to severe obesity and related metabolic conditions.
SOX9 Gene Campomelic Dysplasia Genetic Test
This genetic test analyzes the SOX9 gene using Next Generation Sequencing (NGS) to help diagnose Campomelic Dysplasia, a rare condition affecting skeletal development. It aids in understanding genetic risks and informs family planning.
TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia Genetic Test
Genetic test analyzing the TUBA8 gene to help diagnose conditions like polymicrogyria and optic nerve hypoplasia, often associated with developmental delays and visual impairments. Uses Next Generation Sequencing (NGS).
Acute Leukemia Mini Panel AMLETO INV16 PMLRARA BCRABL TELAML1 MLL E2A
The Acute Leukemia Mini Panel is a genetic test identifying key abnormalities associated with acute leukemia, aiding in diagnosis and treatment planning.
MPZ Full Length Gene Sequence Analysis Charcot Marie Tooth Disease
Genetic test analyzing the MPZ gene to help diagnose Charcot Marie Tooth Disease (CMT), a hereditary neuropathy. Useful for individuals with CMT symptoms or family history.
UBQLN2 Gene Amyotrophic Lateral Sclerosis X-Linked Juvenile and Adult-Onset ALS Genetic Test
Genetic test for mutations in the UBQLN2 gene associated with Amyotrophic Lateral Sclerosis (ALS), using Next Generation Sequencing (NGS).
Fabry Disease Quantitative Blood Test
The Fabry Disease Quantitative Blood Test measures alpha-galactosidase A enzyme activity to help diagnose Fabry disease, a rare inherited metabolic disorder. Early detection allows for timely management.
Prenatal Diagnosis Panel 2 Amniotic Fluid Test
The Prenatal Diagnosis Panel 2 Amniotic Fluid Test helps detect certain genetic disorders, like Mucopolysaccharidoses (MPS), in a fetus using an amniotic fluid sample. This test is recommended for expectant parents concerned about genetic risks.
Ugt1a1 Gene Polymorphism Nucleotide Ta Repeats Detection Test
This genetic test analyzes variations in the UGT1A1 gene, which affects how your body processes certain medications and impacts liver function. It helps identify potential risks related to drug metabolism.
SETX Gene Ataxia-Oculomotor Apraxia Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the SETX gene for mutations associated with Ataxia-Oculomotor Apraxia Type 2, a neurological disorder. Helps in diagnosis and understanding genetic predispositions.
GABRG2 Gene Epilepsy Childhood Absence Type 2 Genetic Test
Genetic test to identify mutations in the GABRG2 gene associated with childhood absence epilepsy. Helps understand genetic factors contributing to neurological disorders.
KIF1A Gene Mental Retardation Autosomal Dominant Type 9 Genetic Test
The KIF1A Gene Mental Retardation Autosomal Dominant Type 9 NGS Genetic DNA Test identifies mutations in the KIF1A gene linked to neurological disorders and developmental delays. This test provides crucial genetic information for diagnosis and management.
DNMT1 Gene Neuropathy Sensor Type 1E Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DNMT1 gene associated with certain types of neuropathy. Helps in diagnosing genetic predispositions to neurological disorders.
Pex12 Gene Zellweger Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PEX12 gene associated with Zellweger syndrome, a serious neurological disorder. Helps assess risk and inform management.
PHKG2 Gene Glycogen Storage Disease Type 9C Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PHKG2 gene associated with Glycogen Storage Disease Type 9C, a rare metabolic disorder. Helps diagnose the condition and inform management.
GALNT3 Gene Tumoral Calcinosis Hyperphosphatemic Familial Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GALNT3 gene associated with Tumoral Calcinosis, Hyperphosphatemic Familial Type 1. Helps understand genetic risk and guide management.
EFEMP2 Gene Cutis Laxa Type 1B Autosomal Recessive Genetic Test
Genetic test to identify mutations in the EFEMP2 gene, associated with Cutis Laxa Type 1B, a rare disorder affecting skin elasticity. Uses Next Generation Sequencing (NGS) technology.
FKBP10 Gene Osteogenesis Imperfecta Type 11 Genetic Test
This genetic test identifies mutations in the FKBP10 gene associated with Osteogenesis Imperfecta (OI) type 11, a condition causing fragile bones. It aids in diagnosis and understanding genetic risks.
Mttf Gene Melas Syndrome Genetic Test
Genetic test to identify mutations in the MTTF gene associated with MELAS syndrome, a mitochondrial disorder. Uses Next-Generation Sequencing (NGS) technology.
SLC6A14 Gene Obesity Susceptibility to SLC6A14 Related Genetic Test
Understand your genetic predisposition to obesity with the SLC6A14 Gene Obesity Susceptibility Test. This genetic test assesses variations in the SLC6A14 gene linked to weight gain and metabolic health.
PRG4 Gene Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PRG4 gene associated with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. Helps understand the genetic basis for better management.
RIPK4 Gene Popliteal Pterygium Syndrome Lethal Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RIPK4 gene associated with Popliteal Pterygium Syndrome. Helps identify genetic risks and informs health management.
Acute Leukemia Panel
The Acute Leukemia Panel is a genetic test used to detect specific markers associated with acute leukemia, aiding in diagnosis and treatment planning.
MM Panel Cytogenetics FISH del(11q) del(13q) IgH del(17p)
This genetic test uses FISH technology to detect specific chromosomal deletions (11q, 13q, 17p) and IgH gene rearrangements associated with certain blood cancers. It aids in diagnosis, treatment planning, and monitoring.
ELP1 Gene HSAN3 Genetic Test
The ELP1 Gene HSAN3 NGS Genetic DNA Test identifies mutations in the ELP1 gene associated with hereditary sensory and autonomic neuropathies (HSAN). This test uses Next Generation Sequencing (NGS) technology for accurate genetic analysis.
Chromosome Interphase Profiling Products of Conception Test
This test analyzes fetal or placental tissue to detect chromosomal abnormalities, providing insights into potential genetic disorders. It is recommended for expectant parents with specific risk factors.
Pnkp Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test
Genetic test to identify mutations in the PNKP gene associated with Ataxia-Oculomotor Apraxia Type 4, a neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
GABRB3 Gene Epilepsy Childhood Absence Type 5 Genetic Test
Genetic test to identify mutations in the GABRB3 gene associated with childhood absence epilepsy. Helps understand genetic factors for tailored management.
PRSS12 Gene Mental Retardation Autosomal Recessive Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PRSS12 gene associated with certain neurological disorders and developmental delays. Confirm with the laboratory before booking.
PMP22 Gene Neuropathy with Liability to Pressure Palsies (HNPP) Genetic Test
Genetic test to identify mutations in the PMP22 gene associated with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), a condition causing nerve sensitivity to pressure.
Pex13 Gene Zellweger Syndrome Genetic Test
The Pex13 Gene Zellweger Syndrome NGS Genetic DNA Test uses Next-Generation Sequencing to identify mutations in the PEX13 gene, aiding in the diagnosis of Zellweger syndrome, a rare neurological disorder. This test can help guide management and treatment.
MPI Gene Glycosylation Disorder Type 1B Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MPI gene associated with Glycosylation Disorder Type 1B, a metabolic condition. Helps diagnose and guide management.
FAH Gene Tyrosinemia Type 1 Genetic Test
This genetic test identifies mutations in the FAH gene, which cause Tyrosinemia type 1, a rare metabolic disorder. Early diagnosis is crucial for effective management.
FBLN5 Gene Cutis Laxa Type 1A Autosomal Recessive Genetic Test
Genetic test to identify mutations in the FBLN5 gene associated with Cutis Laxa Type 1A, a rare connective tissue disorder. Utilizes Next-Generation Sequencing (NGS) technology.
BMP1 Gene Osteogenesis Imperfecta Type 13 Genetic Test
This genetic test identifies mutations in the BMP1 gene associated with Osteogenesis Imperfecta (OI), a condition causing fragile bones. Using Next-Generation Sequencing (NGS), it helps diagnose OI and understand its genetic basis. Recommended for individuals with symptoms or family history of OI.
MTTS1 Gene MERRFMELAS Overlap Syndrome MTTS1 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MTTS1 gene associated with MERRF and MELAS overlap syndromes, aiding in the diagnosis and management of related cardiovascular and neurological conditions.
CTRC Gene Pancreatitis Genetic Test
This genetic test analyzes the CTRC gene to identify mutations linked to pancreatitis risk, using Next Generation Sequencing (NGS) technology. Understanding your genetic predisposition can aid in early management.
TGFB1 Gene Camurati-Engelmann Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TGFB1 gene associated with Camurati-Engelmann disease, a rare condition affecting bones. Confirm with the laboratory before booking.
IRF6 Gene Popliteal Pterygium Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the IRF6 gene associated with Popliteal Pterygium Syndrome (PPS), a type of dysmorphology. Aids in diagnosis and family planning.
Multiplex Panel Cytogenetics PCR for 28 Translocations 80 Breakpoints CML AML ALL
A specialized genetic test to detect specific chromosomal translocations associated with Chronic Myeloid Leukemia (CML), Acute Myeloid Leukemia (AML), and Acute Lymphoblastic Leukemia (ALL). This test aids in diagnosis and treatment planning.
Metapneumonia RNA Detection Qualitative Test
Detects the presence of Metapneumovirus RNA in respiratory samples to diagnose infections caused by this virus. Utilizes Real Time PCR technology.
NGF Gene HSAN5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NGF gene associated with hereditary sensory and autonomic neuropathy type 5 (HSAN5).
Alpha1 Antitrypsin AAT Phenotype Test
The Alpha1 Antitrypsin (AAT) Phenotype Test helps identify genetic variations that can lead to lung and liver disease. It measures the levels and types of AAT protein in your blood.
ChromUltra Chromosome SNP HD Microarray Test
The ChromUltra Chromosome SNP HD Microarray Test is a genetic test to identify chromosomal abnormalities and genetic disorders, providing valuable insights for diagnosis and family planning.
Herpes Simplex Virus HSV Type 1 2 PCR Qualitative Test
Detects the presence of Herpes Simplex Virus (HSV) Type 1 and Type 2 DNA using PCR technology for accurate diagnosis.
Pik3r5 Gene Ataxia-Oculomotor Apraxia Type 3 Genetic Test
This genetic test identifies mutations in the PIK3R5 gene associated with Ataxia-Oculomotor Apraxia Type 3, a neurological disorder. It aids in diagnosis and management for individuals with relevant symptoms or family history.
CACNA1H Gene Epilepsy Childhood Absence Type 6 Susceptibility to Genetic Test
This genetic test analyzes the CACNA1H gene to identify potential susceptibility to childhood absence epilepsy, aiding in diagnosis and management.
TECR Gene Mental Retardation Autosomal Recessive Type 14 Genetic Test
This genetic test identifies mutations in the TECR gene, associated with a specific type of autosomal recessive mental retardation. It uses advanced Next Generation Sequencing (NGS) technology to analyze DNA for genetic abnormalities linked to neurological disorders. Recommended for individuals with relevant family history or symptoms.
POLG Gene Neuropathy with Sensory Ataxic Dysarthria and Ophthalmoparesis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the POLG gene associated with specific neurological disorders like sensory ataxia, dysarthria, and ophthalmoparesis.
Pex14 Gene Zellweger Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PEX14 gene, aiding in the diagnosis of Zellweger syndrome and related neurological disorders.
PMM2 Gene Glycosylation Disorder Type 1A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PMM2 gene, associated with Glycosylation Disorder Type 1A. Helps diagnose metabolic disorders.
TYK2 Gene Tyrosine Kinase 2 Deficiency Genetic Test
The TYK2 Gene Tyrosine Kinase 2 Deficiency NGS Genetic DNA Test identifies mutations in the TYK2 gene, which can be linked to certain metabolic and immune system disorders. This test uses Next Generation Sequencing (NGS) technology for accurate genetic analysis.
FBLN5 Gene Cutis Laxa Type 2 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the FBLN5 gene associated with Cutis Laxa Type 2, an autosomal dominant connective tissue disorder. Utilizes Next Generation Sequencing (NGS) technology.
SP7 Gene Osteogenesis Imperfecta Type 12 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SP7 gene for mutations associated with Osteogenesis Imperfecta Type 12, a condition causing fragile bones. Helps in diagnosis and management.
MTTE Gene Mitochondrial Myopathy Infantile Transient MTTE Related Genetic Test
Genetic test to identify mutations in the MTTE gene associated with infantile transient mitochondrial myopathy. Early diagnosis helps in managing potential health issues.
SLC4A1 Gene Ovalocytosis Genetic Test
This genetic test identifies mutations in the SLC4A1 gene associated with ovalocytosis, a condition affecting red blood cell shape. It uses Next-Generation Sequencing (NGS) technology to provide accurate results for diagnosis and management.
ABCC9 Gene Cantu Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ABCC9 gene associated with Cantu syndrome. Helps confirm diagnosis in individuals with symptoms.
LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the LAMA1 gene associated with Poretti-Boltshauser syndrome, a condition causing developmental issues.
Muscular Dystrophy Gene Panel
The Muscular Dystrophy Gene Panel is a genetic test to identify mutations linked to various forms of muscular dystrophy, aiding in diagnosis, treatment, and family planning.
PRDM12 Gene HSAN8 Genetic Test
Genetic test for mutations in the PRDM12 gene associated with Hereditary Sensory and Autonomic Neuropathy type 8 (HSAN8). Uses Next Generation Sequencing (NGS) technology.
Chromotouch Chromosome SNP Microarray Optima Products of Conception Test
The Chromotouch Chromosome SNP Microarray Optima Products of Conception Test uses advanced genetic technology to identify chromosomal abnormalities in products of conception, aiding in the understanding of recurrent pregnancy loss or infertility.
Herpes Simplex Virus HSV Type 2 PCR Qualitative Test
Detects the presence of Herpes Simplex Virus Type 2 (HSV-2) using a sensitive PCR test. Essential for diagnosing genital herpes symptoms or assessing risk.
Urea Cycle Disorder Panel Test
The Urea Cycle Disorder Panel Test helps diagnose metabolic disorders by detecting specific urea cycle defects. Early detection allows for timely management and improved patient outcomes.
DRD4 Gene Attention Deficit Hyperactivity Disorder Genetic Test
Genetic test analyzing the DRD4 gene to understand potential genetic links to Attention Deficit Hyperactivity Disorder (ADHD).
DEPDC5 Gene Epilepsy Familial Focal With Variable Foci Genetic Test
Genetic test to identify mutations in the DEPDC5 gene, associated with familial focal epilepsy with variable foci. Helps understand the genetic basis of epilepsy.
ST3GAL3 Gene Mental Retardation Autosomal Recessive Type 12 Genetic Test
This genetic test analyzes the ST3GAL3 gene to help diagnose specific neurological disorders associated with autosomal recessive mental retardation. It uses Next-Generation Sequencing (NGS) technology.
Sptlc2 Gene Neuropathy Hereditary Sensory And Autonomic Type 1C Genetic Test
Genetic test to identify mutations in the SPTLC2 gene associated with Hereditary Sensory and Autonomic Neuropathy Type 1C. Helps in diagnosis and management.
PEX16 Gene Zellweger Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PEX16 gene associated with Zellweger syndrome, a serious neurological disorder. Helps in early diagnosis and management.
ALG3 Gene Glycosylation Disorder Type 1D Genetic Test
This genetic test identifies mutations in the ALG3 gene associated with Glycosylation Disorder Type 1D, a metabolic disorder. It uses Next Generation Sequencing (NGS) technology.
TAT Gene Tyrosinemia Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TAT gene associated with Tyrosinemia Type 2, a rare metabolic disorder. Helps in early diagnosis and management.
ATP6V0A2 Gene Cutis Laxa Type 2A Autosomal Recessive Genetic Test
Genetic test to identify mutations in the ATP6V0A2 gene associated with Cutis Laxa Type 2A, a rare connective tissue disorder. Uses Next Generation Sequencing (NGS) technology.
WNT1 Gene Osteogenesis Imperfecta Type 15 Genetic Test
This genetic test identifies mutations in the WNT1 gene associated with Osteogenesis Imperfecta (OI), a condition causing fragile bones. It uses Next-Generation Sequencing (NGS) technology.
MTTS2 Gene MERRF/MELAS Overlap Syndrome MTTS2 Related Genetic Test
Genetic test for mutations in the MTTS2 gene associated with MERRF/MELAS overlap syndromes, using Next Generation Sequencing (NGS). Helps identify risks related to cardiovascular and respiratory health.
PRSS1 Gene Pancreatitis Genetic Test
Genetic test to identify mutations in the PRSS1 gene associated with pancreatitis risk. Helps understand predisposition and guide management.
RAB23 Gene Carpenter Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the RAB23 gene for mutations associated with Carpenter syndrome. Recommended for individuals with dysmorphology symptoms or a family history of the condition.
COL4A1 Gene Porencephaly Familial Genetic Test
Genetic test analyzing the COL4A1 gene to identify mutations associated with porencephaly and related conditions. Suitable for individuals with a family history of dysmorphology or neurological symptoms.
All Panel Cytogenetics FISH BCR/ABL TEL/AML1 MLL E2A
This genetic test uses FISH technology to detect specific genetic abnormalities (BCR/ABL, TEL/AML1, MLL, E2A) associated with blood cancers like leukemia. It aids in diagnosis and treatment planning.
EIF2B3 Gene Leukoencephalopathy with Vanishing White Matter Genetic Test
Genetic test to identify mutations in the EIF2B3 gene, associated with vanishing white matter disease, a rare neurological disorder. Helps in early diagnosis and management.
Herpes Simplex Virus HSV Type I PCR Qualitative Test
Detects the presence of Herpes Simplex Virus Type I (HSV-1) using a sensitive PCR test. Helps diagnose infections early for timely management.
ATM Gene Ataxiatelangiectasia Genetic Test
The ATM Gene Ataxiatelangiectasia NGS Genetic DNA Test uses advanced sequencing technology to detect mutations in the ATM gene, aiding in the diagnosis of Ataxia-telangiectasia, a genetic disorder affecting the nervous system and immune function.
CPA6 Gene Epilepsy Familial Temporal Lobe Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CPA6 gene for mutations associated with Familial Temporal Lobe Epilepsy. Useful for individuals with a family history of epilepsy.
MAN1B1 Gene Mental Retardation Autosomal Recessive Type 15 Genetic Test
This genetic test identifies mutations in the MAN1B1 gene, which are associated with certain types of developmental delays and neurological conditions. It uses advanced DNA sequencing technology.
BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A Genetic Test
Genetic test to identify mutations in the BSCL2 gene associated with Distal Hereditary Motor Neuropathy Type 5A (dHMN5A).
Pex19 Gene Zellweger Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PEX19 gene associated with Zellweger syndrome, a serious neurological disorder. Confirm with the laboratory before booking.
MPDU1 Gene Glycosylation Disorder Type 1F Genetic Test
This genetic test identifies mutations in the MPDU1 gene, associated with Glycosylation Disorder Type 1F, a metabolic condition. Using Next Generation Sequencing (NGS), it aids in diagnosing and managing this rare disorder. Confirm with the laboratory before booking.
GSTZ1 Gene Tyrosinemia Type 1B Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the GSTZ1 gene, aiding in the diagnosis of Tyrosinemia Type 1B, a rare metabolic disorder. Early diagnosis is key for management.
PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive Genetic Test
Genetic test to identify mutations in the PYCR1 gene associated with Cutis Laxa Type 2B, an autosomal recessive connective tissue disorder. Helps diagnose the condition in individuals with symptoms or a relevant family history.
TMEM38B Gene Osteogenesis Imperfecta Type 14 Genetic Test
Genetic test for mutations in the TMEM38B gene associated with Osteogenesis Imperfecta Type 14, using Next Generation Sequencing (NGS) technology.
MTTD Gene Mitochondrial Myopathy Isolated Genetic Test
Genetic test to identify mutations in the MT-TD gene, associated with mitochondrial myopathy and cardiovascular symptoms. Uses Next Generation Sequencing (NGS).
SPINK1 Gene Pancreatitis Genetic Test
The SPINK1 Gene Pancreatitis Genetic Test analyzes the SPINK1 gene to identify genetic predispositions to pancreatitis. This test can help individuals with a family history or symptoms understand their risk.
MEGF8 Gene Carpenter Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MEGF8 gene associated with Carpenter syndrome type 2. Helps in diagnosing and managing this genetic disorder.
DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test
Genetic test analysing the DHODH gene to help diagnose Postaxial Acrofacial Dysostosis, a condition associated with dysmorphology. Aids in understanding the genetic basis for informed management and family planning.
All PCR Panel Cytogenetics PCR BCRABLTELAML1MLL E2A
A genetic test using PCR to detect specific mutations (BCR/ABL, TEL/AML1, MLL, E2A) associated with certain blood cancers. Helps guide diagnosis and treatment.
MYD88 Gene Mutation Analysis
Identifies mutations in the MYD88 gene, associated with certain blood cancers like lymphoma and leukemia. Helps guide diagnosis and treatment.
Syngap1 Gene Mental Retardation Autosomal Dominant Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SYNGAP1 gene, associated with neurodevelopmental disorders and intellectual disability. Confirm with the laboratory before booking.
Chronic Lymphocytic Leukemia CLL Mutations Detection Comprehensive Panel Test
The Chronic Lymphocytic Leukemia (CLL) Mutations Detection Comprehensive Panel Test identifies specific genetic mutations associated with CLL, aiding oncologists in tailoring effective treatment strategies.
Medullary Thyroid Carcinoma Mutation Detection Test
Genetic test to identify RET gene mutations linked to medullary thyroid carcinoma (MTC), crucial for early diagnosis and risk assessment, especially for those with a family history.
DRD5 Gene Attention Deficit Hyperactivity Disorder Genetic Test
Genetic test analyzing the DRD5 gene for variations associated with Attention Deficit Hyperactivity Disorder (ADHD). Provides insights for diagnosis and management.
LGI1 Gene Epilepsy Familial Temporal Lobe Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the LGI1 gene associated with familial temporal lobe epilepsy. Helps understand genetic predisposition and guide management.
MED23 Gene Mental Retardation Autosomal Recessive Type 18 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MED23 gene associated with certain neurological disorders and developmental delays.
SCN9A Gene Neuropathy Hereditary Sensory and Autonomic Type 2 Genetic Test
Genetic test for mutations in the SCN9A gene, associated with Hereditary Sensory and Autonomic Neuropathy Type 2. Helps identify genetic risks for neurological conditions.
Pex2 Gene Zellweger Syndrome Genetic Test
This genetic test identifies mutations in the PEX2 gene, which are associated with Zellweger syndrome, a serious neurological disorder. It helps confirm diagnosis and guide management.
ALG12 Gene Glycosylation Disorder Type 1G Genetic Test
Genetic test for mutations in the ALG12 gene associated with Glycosylation Disorder Type 1G, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
HPD Gene Tyrosinemia Type 3 Genetic Test
Genetic test to identify mutations in the HPD gene associated with Tyrosinemia Type 3, a metabolic disorder. Helps in early diagnosis and management.
PYCR1 Gene Cutis Laxa Type 3B Autosomal Recessive Genetic Test
Genetic test to identify mutations in the PYCR1 gene associated with Cutis Laxa Type 3B, an autosomal recessive connective tissue disorder. Uses Next Generation Sequencing (NGS) technology.
IFITM5 Gene Osteogenesis Imperfecta Type 5 Genetic Test
This genetic test identifies mutations in the IFITM5 gene, which can cause Osteogenesis Imperfecta (OI) type 5, a condition characterized by fragile bones. It uses Next Generation Sequencing (NGS) technology.
MTTA Gene Mitochondrial Myopathy MTTA Related Genetic Test
Genetic test to identify mutations in the MTTA gene, associated with mitochondrial myopathy. Helps diagnose and manage mitochondrial disorders.
PRSS2 Gene Pancreatitis Chronic Protection Against Genetic Test
Genetic test to identify variations in the PRSS2 gene associated with an increased risk of developing chronic pancreatitis. Recommended for individuals with a family history of the condition.
IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
Genetic test analysing the IARS2 gene to help diagnose conditions like cataracts, growth hormone deficiency, sensory neuropathy, hearing loss, and skeletal dysplasia. Uses Next Generation Sequencing (NGS) technology.
CHRM3 Gene Prune Belly Syndrome Genetic Test
Genetic test for mutations in the CHRM3 gene associated with Prune Belly Syndrome. Helps in diagnosis and management, especially for pediatric cases.
ALL Panel Deletion/Duplication Detection
The ALL Panel Deletion/Duplication Detection test identifies specific genetic changes associated with Acute Lymphoblastic Leukemia (ALL), aiding diagnosis and treatment planning.
Myeloproliferative Leukemia Mutation Screening MPL S505N W515L
This genetic test detects specific mutations (S505N, W515L) in the MPL gene, which are linked to myeloproliferative neoplasms and leukemia. It aids in diagnosis and treatment planning.
Metapneumonia Virus B RNA Detection Qualitative Test
Detects the presence of Metapneumonia Virus B RNA using Real Time PCR to aid in diagnosing respiratory infections. Confirm with the laboratory before booking.
MLC1 Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MLC1 gene, associated with megalencephalic leukoencephalopathy with subcortical cysts, a rare neurological disorder.
Chronic Lymphocytic Leukemia CLL Mutations Detection Panel 2 Test
The Chronic Lymphocytic Leukemia (CLL) Mutations Detection Panel 2 Test identifies specific genetic mutations associated with CLL. This test helps guide treatment decisions and monitor disease progression for patients diagnosed with CLL.
HHH Syndrome Hyperornithinemia Hyperammonemia Homocitrullinuria Syndrome Test
A genetic test to help diagnose HHH Syndrome (Hyperornithinemia, Hyperammonemia, Homocitrullinuria), an inherited metabolic disorder. Confirm with the laboratory before booking.
Megalencephalic Leukoencephalopathy with Subcortical Cysts Van der Knaap and Nalband MLC Gene Hotspot Mutation Test
This genetic test identifies specific mutations in the MLC1 gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), a rare neurological disorder. It helps diagnose the genetic cause of certain brain abnormalities and neurological symptoms.
AHNAK2 Gene Autism Spectrum Disorder Genetic Test
Genetic test analysing the AHNAK2 gene to identify potential genetic links to Autism Spectrum Disorder (ASD).
Reln Gene Epilepsy Familial Temporal Lobe Type 7 Genetic Test
Genetic test to identify mutations in the RELN gene associated with familial temporal lobe epilepsy. Helps understand genetic risks and inform treatment.
CRBN Gene Mental Retardation Autosomal Recessive Type 2 Genetic Test
This genetic test identifies mutations in the CRBN gene associated with a specific type of autosomal recessive mental retardation. It uses Next Generation Sequencing (NGS) technology to analyze DNA from a blood sample.
ATL1 Gene Neuropathy Hereditary Sensory Type 1D Genetic Test
Genetic test to identify mutations in the ATL1 gene associated with Hereditary Sensory Neuropathy Type 1D. Uses Next Generation Sequencing (NGS) technology.
Pex26 Gene Zellweger Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PEX26 gene, associated with Zellweger syndrome and related neurological disorders.
ALG8 Gene Glycosylation Disorder Type 1H Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ALG8 gene associated with Glycosylation Disorder Type 1H, aiding in the diagnosis of metabolic disorders.
ECM1 Gene Urbach-Wiethe Disease Genetic Test
This genetic test identifies mutations in the ECM1 gene associated with Urbach-Wiethe disease, a rare metabolic disorder. It uses Next-Generation Sequencing (NGS) technology to analyze genetic material, aiding in early diagnosis and personalized management.
ALDH18A1 Gene Cutis Laxa Type 3A Autosomal Recessive Genetic Test
Genetic test for mutations in the ALDH18A1 gene associated with Cutis Laxa Type 3A, a rare skin disorder. Uses Next Generation Sequencing (NGS) technology.
SERPINF1 Gene Osteogenesis Imperfecta Type 6 Genetic Test
This genetic test identifies mutations in the SERPINF1 gene associated with Osteogenesis Imperfecta (OI) type 6, a condition causing fragile bones. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis.
Mitochondrial Myopathy MTTM Related Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to analyze the MTTM gene, helping to diagnose mitochondrial myopathies. It aids in understanding genetic risks for conditions affecting muscles and the heart. Confirm with the laboratory before booking.
CPA1 Gene Pancreatitis Chronic Early Onset Genetic Test
Genetic test to identify mutations in the CPA1 gene associated with early-onset chronic pancreatitis. Helps understand genetic risk factors for better management.
TP63 Gene RappHodgkin Syndrome Genetic Test
The TP63 Gene RappHodgkin Syndrome NGS Genetic DNA Test helps identify genetic predispositions to RappHodgkin syndrome using Next-Generation Sequencing (NGS) technology. This test analyzes the TP63 gene to detect mutations associated with the syndrome.
Alpha Thalassemia Mutation Screening 3 Common Mutation
Alpha Thalassemia Mutation Screening identifies three common genetic mutations linked to Alpha Thalassemia, a blood disorder affecting hemoglobin production. This test helps assess risk and inform health management.
Myeloproliferative Neoplasia MPN Panel BCR QLTJAK2 PANELCALR MPL
The Myeloproliferative Neoplasia (MPN) Panel detects genetic mutations (BCR, JAK2, CALR, MPL) associated with blood disorders like Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis. This test aids in diagnosis and treatment planning.
ZNF711 Gene Mental Retardation X-Linked Type 97 Genetic Test
The ZNF711 Gene Mental Retardation X-Linked Type 97 Genetic Test identifies genetic mutations linked to specific neurological disorders. This test uses Next Generation Sequencing (NGS) technology to analyze the ZNF711 gene, aiding in diagnosis and management.
Chronic Lymphocytic Leukemia CLL Mutations Detection Panel 1 Test
This test identifies specific genetic mutations associated with Chronic Lymphocytic Leukemia (CLL) to help guide treatment decisions and understand prognosis. It analyzes common chromosomal abnormalities linked to CLL.
ANKS3 Gene Autism Spectrum Disorder Genetic Test
Genetic test to identify mutations in the ANKS3 gene associated with Autism Spectrum Disorder (ASD). Helps understand genetic factors and hereditary risks.
SCN3A Gene Epilepsy Focal SCN3A Related Genetic Test
Genetic test to identify mutations in the SCN3A gene associated with focal epilepsy, aiding diagnosis and treatment planning.
LINS1 Gene Mental Retardation Autosomal Recessive Type 27 Genetic Test
This genetic test analyzes the LINS1 gene to identify mutations associated with certain neurological disorders and developmental delays. It uses Next Generation Sequencing (NGS) technology.
DST Gene Neuropathy Hereditary Sensory and Autonomic Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DST gene associated with Hereditary Sensory and Autonomic Neuropathy Type 6 (HSAN VI).
Pex6 Gene Zellweger Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PEX6 gene associated with Zellweger syndrome, a rare neurological disorder.
Alg2 Gene Glycosylation Disorder Type 1I Genetic Test
Genetic test to identify mutations in the ALG2 gene associated with Glycosylation Disorder Type 1I, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
G6PC Gene VonGierke Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the G6PC gene for mutations associated with Von Gierke disease, a metabolic disorder affecting carbohydrate metabolism.
ELN Gene Cutis Laxa Autosomal Dominant Genetic Test
Genetic test to identify mutations in the ELN gene associated with autosomal dominant cutis laxa, a condition affecting skin elasticity.
CRTAP Gene Osteogenesis Imperfecta Type 7 Genetic Test
Genetic test to identify mutations in the CRTAP gene associated with Osteogenesis Imperfecta (OI), a condition causing fragile bones. Useful for individuals with symptoms or family history of brittle bone disease.
Mttq Gene Myopathy Mttq Related Genetic Test
The MTTQ Gene Myopathy test uses Next-Generation Sequencing (NGS) to identify genetic mutations in the MTTQ gene associated with myopathy and cardiovascular disorders. This test helps diagnose genetic predispositions and inform treatment decisions.
CDC73 Gene Parathyroid Adenoma with Cystic Changes Familial Genetic Test
Genetic test for mutations in the CDC73 gene associated with familial parathyroid adenoma. Utilizes Next Generation Sequencing (NGS) technology.
ECE1 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ECE1 gene associated with congenital central hypoventilation syndrome. Helps diagnose and manage respiratory conditions, especially in children.
RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the RDH11 gene for mutations associated with retinal dystrophy, juvenile cataracts, and short stature syndrome.
Mycoplasma Species RNA Detection Qualitative Test
Detects the presence of Mycoplasma bacteria RNA using Real Time PCR technology. This qualitative test helps diagnose infections that may not be detected by traditional methods.
USP9X Gene Mental Retardation X-Linked Type 99 Genetic Test
Genetic test to identify mutations in the USP9X gene, associated with X-linked mental retardation and neurological disorders. Uses Next-Generation Sequencing (NGS) for accurate diagnosis.
Amino Acid Quantitative CSF 45 Amino Acids Full Panel Test
This test measures 45 amino acids in cerebrospinal fluid (CSF) to help diagnose inborn errors of metabolism, particularly in children.
Chronic Lymphocytic Leukemia CLL Prognostic Panel Test
The Chronic Lymphocytic Leukemia (CLL) Prognostic Panel Test assesses key genetic markers to help predict disease progression and guide treatment decisions for patients diagnosed with CLL.
Factor V Leiden Mutation Analysis Test
Detects the Factor V Leiden mutation, a genetic factor increasing the risk of blood clots like DVT and PE. Helps guide preventative care.
EN2 Gene Autism Spectrum Disorder Genetic Test
Genetic test analyzing the EN2 gene for variations associated with Autism Spectrum Disorder (ASD). Provides insights for diagnosis and intervention.
Hcn2 Gene Epilepsy Hcn2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HCN2 gene associated with epilepsy. Helps understand genetic risks and guide management.
CC2D1A Gene Mental Retardation Autosomal Recessive Type 3 Genetic Test
This genetic test analyzes the CC2D1A gene to help identify potential genetic causes of certain neurological disorders associated with developmental delays. Confirm with the laboratory before booking.
ATL3 Gene Neuropathy Hereditary Sensory Type 1F Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ATL3 gene associated with Hereditary Sensory Neuropathy Type 1F.
Newborns Genetic Test Panel Genetic Test
A genetic screening test for newborns using Next-Generation Sequencing (NGS) to detect potential metabolic disorders early.
ALG1 Gene Glycosylation Disorder Type 1K Genetic Test
The ALG1 Gene Glycosylation Disorder Type 1K NGS Genetic DNA Test identifies genetic mutations linked to metabolic disorders affecting glycosylation. This test uses advanced Next-Generation Sequencing (NGS) technology for accurate diagnosis.
ATP7B Gene Wilson Disease Genetic Test
Genetic test to detect mutations in the ATP7B gene, associated with Wilson's disease, a disorder of copper metabolism. Early diagnosis is key for effective management.
COL2A1 Gene Czech Dysplasia Genetic Test
Genetic test analyzing the COL2A1 gene to identify predispositions to osteology and dermatology disorders, such as Czech Dysplasia. Uses Next Generation Sequencing (NGS) technology.
PPIB Gene Osteogenesis Imperfecta Type 9 Genetic Test
This genetic test identifies mutations in the PPIB gene associated with Osteogenesis Imperfecta (OI) type 9, a condition causing fragile bones. It uses Next Generation Sequencing (NGS) technology.
ACTA2 Gene Moyamoya Disease Type 5 Genetic Test
Genetic test to identify mutations in the ACTA2 gene associated with Moyamoya disease, a rare cerebrovascular disorder. Helps in early diagnosis and management.
PRKAR1A Gene Pigmented Nodular Adrenocortical Disease Type 1 Primary Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PRKAR1A gene, associated with Pigmented Nodular Adrenocortical Disease Type 1 and other adrenal disorders. Helps assess risk and guide management.
Bdnf Gene Central Hypoventilation Syndrome Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the BDNF gene associated with congenital central hypoventilation syndrome. Helps in early diagnosis and management.
MECP2 Gene Rett Syndrome Genetic Test
This genetic test analyzes the MECP2 gene to help diagnose Rett syndrome, a neurodevelopmental disorder primarily affecting females. It uses Next Generation Sequencing (NGS) technology.
AML Panel Cytogenetics FISH AMLETO inv16 PMLRARA MLL
This specialized test identifies key genetic abnormalities associated with acute myeloid leukemia (AML), aiding in diagnosis and treatment planning.
Nervous System Cancer Gene Panel
The Nervous System Cancer Gene Panel is a genetic test that screens for mutations associated with nervous system cancers, aiding in early detection and personalized treatment planning.
NDUFA1 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NDUFA1 gene, associated with mitochondrial complex I deficiency and neurological symptoms. Confirm with the laboratory before booking.
Amino Acid Nonketotic Hyperglycinemia Panel Quantitative CSF Plasma Test
This test measures glycine levels in cerebrospinal fluid (CSF) and plasma to help diagnose nonketotic hyperglycinemia, an inherited metabolic disorder. Essential for identifying potential neurological issues early.
BPIFA3 Gene Autism Spectrum Disorder Genetic Test
This genetic test analyzes the BPIFA3 gene to identify variations associated with Autism Spectrum Disorder (ASD). It uses Next-Generation Sequencing (NGS) technology to provide insights into potential genetic factors contributing to ASD.
GABRD Gene Epilepsy Idiopathic Generalized Type 10 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GABRD gene associated with idiopathic generalized epilepsy. Helps understand genetic risks and guide treatment.
ADAT3 Gene Mental Retardation Autosomal Recessive Type 36 Genetic Test
Genetic test to identify mutations in the ADAT3 gene associated with neurological disorders and developmental delays. Helps in early diagnosis and management.
CCT5 Gene Neuropathy Hereditary Sensory with Spastic Paraplegia Genetic Test
Genetic test to identify mutations in the CCT5 gene associated with hereditary sensory neuropathy and spastic paraplegia. Helps in early detection and informed health management.
Metabolic Disorders Wide Range Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations associated with a wide range of metabolic disorders. Helps in early detection and management.
Alg9 Gene Glycosylation Disorder Type 1L Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ALG9 gene, associated with Glycosylation Disorder Type 1L, a metabolic condition. Helps diagnose potential health risks and guide treatment.
LIPA Gene Wolman Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the LIPA gene, aiding in the diagnosis of Wolman disease, a rare metabolic disorder.
DSPP Gene Dentin Dysplasia Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DSPP gene associated with Dentin Dysplasia Type 2, a condition affecting tooth development.
P3H1 Gene Osteogenesis Imperfecta Type 8 Genetic Test
Genetic test to identify mutations in the P3H1 gene associated with Osteogenesis Imperfecta Type 8, using Next-Generation Sequencing (NGS).
GATA6 Gene Pancreatic Agenesis and Congenital Heart Defects Genetic Test
Genetic test to identify mutations in the GATA6 gene associated with pancreatic agenesis and congenital heart defects. Helps in early diagnosis and family planning.
LHX4 Gene Pituitary Hormone Deficiency Combined Type 4 Genetic Test
This genetic test analyzes the LHX4 gene to identify mutations associated with combined pituitary hormone deficiency type 4. It uses Next Generation Sequencing (NGS) technology.
GDNF Gene Central Hypoventilation Syndrome Congenital Genetic Test
This genetic test identifies mutations in the GDNF gene associated with Congenital Central Hypoventilation Syndrome (CCHS), a condition affecting breathing control. It uses Next-Generation Sequencing (NGS) for accurate diagnosis.
Foxg1 Gene Rett Syndrome Congenital Variant Genetic Test
Genetic test to identify mutations in the FOXG1 gene associated with Rett Syndrome, a neurodevelopmental disorder. Helps in early diagnosis and management.
AML PCR Panel AMLETO Inv16 PMLRARA
The AML PCR Panel AMLETO Inv16 PMLRARA test detects specific genetic mutations linked to acute myeloid leukemia (AML), aiding in diagnosis and treatment planning.
Neuronal Ceroid Lipofuscinosis Gene Panel
This genetic test identifies mutations associated with Neuronal Ceroid Lipofuscinosis (NCL), a group of inherited neurodegenerative disorders. Early diagnosis is key for management.
Mycoplasma Pneumonia RNA Detection Qualitative Test
Detects the presence of Mycoplasma pneumoniae RNA to diagnose respiratory infections. Uses Real Time PCR for accurate results.
ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency Genetic Test
Genetic test to identify mutations in the ECHS1 gene, associated with neurological disorders related to mitochondrial function. Helps in diagnosis and management.
Amino Acids Maple Syrup Urine Disease MSUD Panel Plasma Test
This test helps diagnose Maple Syrup Urine Disease (MSUD), an inherited metabolic disorder affecting amino acid processing. Early detection is crucial for managing this condition, especially in infants.
RABGGTA Gene Autism Spectrum Disorder Genetic Test
The RABGGTA Gene Autism Spectrum Disorder NGS Genetic DNA Test uses advanced sequencing technology to identify genetic variations linked to autism spectrum disorder (ASD). This test can help in early detection and management, particularly for individuals with a family history of ASD.
SPATA5 Gene Epilepsy Hearing Loss and Mental Retardation Syndrome Genetic Test
Genetic test to identify mutations in the SPATA5 gene associated with epilepsy, hearing loss, and developmental delays. Confirm with the laboratory before booking.
ANK3 Gene Mental Retardation Autosomal Recessive Type 37 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ANK3 gene associated with autosomal recessive mental retardation. Helps diagnose neurological disorders and informs management.
PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy Genetic Test
Genetic test for mutations in the PNPLA2 gene, associated with neutral lipid storage disease and myopathy. Utilizes Next-Generation Sequencing (NGS) for accurate diagnosis.
Lysosomal Storage Disorders Enzyme Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to help diagnose lysosomal storage disorders, a group of metabolic conditions caused by enzyme deficiencies. Confirm with the laboratory before booking.
RFT1 Gene Glycosylation Disorder Type 1N Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RFT1 gene associated with Type 1N glycosylation disorders. Helps diagnose metabolic conditions.
XDH Gene Xanthinuria Type 1 Genetic Test
Genetic test to identify mutations in the XDH gene associated with Xanthinuria Type 1, a rare metabolic disorder. Helps understand genetic risk and manage health.
DSPP Gene Dentinogenesis Imperfecta Shields Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DSPP gene for variations associated with Dentinogenesis Imperfecta Shields type 3, a condition affecting tooth development.
PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PLOD2 gene. Helps diagnose Osteogenesis Imperfecta (OI) and congenital joint contractures, identifying mutations linked to connective tissue disorders. Confirm with the laboratory before booking.
SFTPA1 Gene Pulmonary Fibrosis Idiopathic Genetic Test
Genetic test for mutations in the SFTPA1 gene associated with idiopathic pulmonary fibrosis. Helps assess risk and inform management.
LHX3 Gene Pituitary Hormone Deficiency Combined Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LHX3 gene associated with combined pituitary hormone deficiency. Helps diagnose endocrine disorders.
GFRA1 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Genetic test to identify variations in the GFRA1 gene associated with Congenital Central Hypoventilation Syndrome (CCHS).
AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the AGPS gene, associated with Rhizomelic Chondrodysplasia Punctata Type 3. Helps diagnose genetic conditions linked to dysmorphology.
NGS Homologous Recombinant Deficiency HRR Panel
The NGS Homologous Recombinant Deficiency HRR Panel is a genetic test to identify deficiencies in homologous recombination repair mechanisms, which can increase the risk of certain hereditary cancers. This test helps guide treatment and prevention strategies.
Mycoplasma Genitalium Bacterial Load Test
Detects and quantifies Mycoplasma Genitalium bacteria, linked to reproductive health issues. Helps guide treatment.
RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A10 Genetic Test
Genetic test to identify mutations in the RXYLT1 gene, associated with a specific type of congenital muscular dystrophy affecting the brain and eyes. Uses Next Generation Sequencing (NGS) technology.
Amino Acids Qualitative One Dimensional Urine Test
This test analyzes amino acid levels in urine to help identify inborn errors of metabolism, which are conditions affecting the body's ability to process amino acids. It is used for diagnosing metabolic disorders.
MERRF Myoclonic Epilepsy Associated With Ragged Red Fibres Mutation Detection Test
Genetic test to detect mutations associated with Myoclonic Epilepsy with Ragged Red Fibres (MERRF) syndrome, a neurological disorder.
MXRA5 Gene Autism Spectrum MXRA5 Related Genetic Test
Genetic test analyzing the MXRA5 gene to identify variations potentially linked to Autism Spectrum Disorders (ASD).
CLCN2 Gene Epilepsy Idiopathic Generalized Type 11 Genetic Test
Genetic test to identify mutations in the CLCN2 gene associated with idiopathic generalized epilepsy. Uses Next Generation Sequencing (NGS) technology.
HERC2 Gene Mental Retardation Autosomal Recessive Type 38 Genetic Test
Genetic test to identify mutations in the HERC2 gene associated with a specific type of autosomal recessive mental retardation. Uses Next-Generation Sequencing (NGS) for accurate analysis.
GNE Gene Nonaka Myopathy Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify mutations in the GNE gene, which are associated with Nonaka myopathy, a rare condition causing progressive muscle weakness. Confirm with the laboratory before booking.
MPS Enzyme Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations related to mucopolysaccharidoses (MPS), a group of metabolic disorders. Helps in diagnosing and managing these conditions.
DPM3 Gene Glycosylation Disorder Type 1O Genetic Test
Genetic test to identify mutations in the DPM3 gene, associated with Glycosylation Disorder Type 1O. Utilizes Next-Generation Sequencing (NGS) technology.
Comprehensive Ear Nose Throat Panel Genetic Test
A genetic test using Next Generation Sequencing (NGS) to identify genetic variations associated with various ear, nose, and throat (ENT) disorders. Helps in understanding genetic predispositions for conditions like hearing loss and chronic sinusitis.
DSPP Gene Dentinogenesis Imperfecta Shields Type 2 Genetic Test
This genetic test identifies mutations in the DSPP gene associated with Shields type 2 Dentinogenesis Imperfecta, a condition affecting tooth development. It helps diagnose the condition, especially in individuals with a family history or specific dental symptoms.
IL1RN Gene Osteomyelitis Sterile Multifocal with Periostitis and Pustulosis Genetic Test
Genetic test for the IL1RN gene to assess predisposition to specific forms of osteomyelitis (bone infection) involving inflammation and skin pustules. Uses Next Generation Sequencing (NGS).
TRPM4 Gene Progressive Familial Heart Block Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TRPM4 gene associated with progressive familial heart block. Aids in understanding genetic risk for heart conditions.
PKD1 Gene Polycystic Kidney Disease Type 1 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the PKD1 gene associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Helps assess risk and guide management.
EDN3 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the EDN3 gene associated with Congenital Central Hypoventilation Syndrome (CCHS).
GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test
Genetic test to identify mutations in the GNPAT gene associated with Rhizomelic Chondrodysplasia Punctata Type 2, a condition affecting skeletal development.
NGS TP53 Mutation Analysis
The NGS TP53 Mutation Analysis detects mutations in the TP53 gene, a key tumor suppressor. This genetic test helps assess cancer risk, particularly for individuals with a family history of certain cancers. Understanding TP53 status can inform prevention and treatment strategies.
NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 Genetic Test
This genetic test identifies mutations in the NARS2 gene, which can cause Combined Oxidative Phosphorylation Deficiency Type 24, a metabolic disorder affecting energy production. It helps diagnose the genetic basis of certain symptoms.
Amino Acids Qualitative Two Dimensional Urine Test
The Amino Acids Qualitative Two Dimensional Urine Test helps identify inborn errors of metabolism by analyzing amino acid levels in urine. This test is particularly useful for diagnosing metabolic disorders in children.
Metachromatic Leucodystrophy Quantitative Blood Test
This test helps diagnose Metachromatic Leucodystrophy, a genetic metabolic disorder affecting the nervous system, especially in children. Early detection enables timely management.
Myo16 Gene Autism Spectrum Disorder Myo16 Related Genetic Test
The Myo16 Gene Autism Spectrum Disorder Test uses Next-Generation Sequencing (NGS) to identify genetic variations in the MYO16 gene associated with autism spectrum disorders (ASD). This test can provide valuable insights for families seeking to understand potential genetic factors related to ASD.
SLC2A1 Gene Epilepsy Idiopathic Generalized Type 12 Genetic Test
Genetic test analyzing the SLC2A1 gene to identify variations associated with idiopathic generalized epilepsy. Helps understand genetic predisposition and inform management.
TTI2 Gene Mental Retardation Autosomal Recessive Type 39 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TTI2 gene associated with a specific type of autosomal recessive mental retardation. Helps in diagnosing neurological disorders and informing family planning.
NPC1 Gene Niemann-Pick Disease Type C1 Genetic Test
Genetic test to identify mutations in the NPC1 gene, associated with Niemann-Pick disease type C1, a rare neurological disorder. Utilizes Next Generation Sequencing (NGS) technology.
NCL Enzyme Panel Genetic Test
The NCL Enzyme Panel NGS Genetic DNA Test identifies genetic mutations linked to Neuronal Ceroid Lipofuscinoses (NCL), a group of inherited metabolic disorders. Using Next-Generation Sequencing (NGS), this test analyzes DNA to detect variations affecting enzyme function. Recommended for individuals with symptoms or a family history of NCL.
Alg13 Gene Glycosylation Disorder Type 1S Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ALG13 gene, associated with Glycosylation Disorder Type 1S, a metabolic disorder. Confirm with the laboratory before booking.
MOCOS Gene Xanthinuria Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MOCOS gene, associated with Xanthinuria type 2, a rare metabolic disorder. Helps diagnose the cause of metabolic dysfunctions.
FLG Gene Dermatitis Atopic Type 2 Genetic Test
Genetic test to identify mutations in the FLG gene associated with atopic dermatitis (eczema). Helps understand genetic predisposition and guide treatment.
TNFRSF11A Gene Osteolysis Familial Expansile Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TNFRSF11A gene associated with familial expansile osteolysis, a bone disorder.
CRHR1 Gene Pulmonary Newborn Hypertension Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the CRHR1 gene associated with pulmonary hypertension in newborns. Aids in early detection for timely intervention.
PKHD1 Gene Polycystic Kidney and Hepatic Disease Genetic Test
Genetic test to identify mutations in the PKHD1 gene, associated with autosomal recessive polycystic kidney and hepatic disease (ARPKD).
PHOX2A Gene Central Hypoventilation Syndrome Congenital Genetic Test
This genetic test analyzes the PHOX2A gene to help diagnose Congenital Central Hypoventilation Syndrome (CCHS), a condition affecting breathing control, particularly during sleep. It uses Next Generation Sequencing (NGS) technology.
WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the WASHC5 gene associated with Ritscher-Schinzel syndrome Type 1, a rare disorder causing physical malformations and developmental delays.
AML Prognostic Panel Cytogenetics PCR AMLETO INV16 PMLRARA FLT3 NPM1 CEBPA
The AML Prognostic Panel Cytogenetics PCR test identifies specific genetic mutations associated with acute myeloid leukemia (AML) to aid in diagnosis, prognosis, and treatment planning.
Mycoplasma Homonis Bacterial Load Test
The Mycoplasma Homonis Bacterial Load Test helps diagnose infections caused by Mycoplasma hominis bacteria, which can affect reproductive health. This test measures the quantity of bacteria present.
PPP1R17 Gene Hypercholesterolemia Susceptibility to Genetic Test
This genetic test assesses your risk of developing high cholesterol levels due to variations in the PPP1R17 gene. It uses Next Generation Sequencing (NGS) technology to identify genetic predispositions to hypercholesterolemia, aiding in early detection and management.
Amino Acids Qualitative Plasma Test
The Amino Acids Qualitative Plasma Test helps identify inborn errors of metabolism by assessing amino acid levels in plasma. Essential for diagnosing metabolic disorders, especially in children.
GRM7 Gene Autism Spectrum Hyperactivity Bipolar Disorder GRM7 Related Genetic Test
Genetic test analyzing the GRM7 gene for variations associated with Autism Spectrum Disorder, hyperactivity, and bipolar disorder. Provides insights into genetic predispositions for neurological conditions.
EFHC1 Gene Epilepsy Juvenile Absence Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the EFHC1 gene associated with Juvenile Absence Epilepsy Type 1. Aids in diagnosis and treatment planning.
TAF2 Gene Mental Retardation Autosomal Recessive Type 40 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TAF2 gene associated with autosomal recessive mental retardation. Helps diagnose neurological disorders and inform family planning.
NDP Gene Norrie Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NDP gene associated with Norrie disease, a condition affecting the eyes and nervous system.
Sphingo Enzyme Panel Genetic Test
The Sphingo Enzyme Panel NGS Genetic DNA Test identifies genetic variations linked to sphingolipid metabolism, aiding in the diagnosis of metabolic disorders. Utilizes Next Generation Sequencing (NGS) technology.
DPM2 Gene Glycosylation Disorder Type 1U Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DPM2 gene, associated with Glycosylation Disorder Type 1U. Helps diagnose metabolic disorders.
COL4A3 Gene Alport Syndrome Autosomal Recessive Genetic Test
This genetic test analyzes the COL4A3 gene to help diagnose Alport syndrome, a hereditary condition affecting the kidneys, hearing, and eyes. It uses Next-Generation Sequencing (NGS) technology.
KRT14 Gene Dermatopathia Pigmentosa Reticularis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KRT14 gene, associated with Dermatopathia Pigmentosa Reticularis and other skin conditions. Helps identify genetic risks for skin disorders.
AMER1 Gene Osteopathia Striata with Cranial Sclerosis Genetic Test
Genetic test to identify mutations in the AMER1 gene associated with osteopathia striata and cranial sclerosis. Helps understand genetic risk and inform health management.
EIF2AK4 Gene Pulmonary Venoocclusive Disease Type 2 Genetic Test
Genetic test to identify mutations in the EIF2AK4 gene associated with pulmonary venoocclusive disease (PVOD), a rare lung disorder. Uses Next Generation Sequencing (NGS) technology.
PKHD1 Gene Polycystic Kidney Disease Type 1 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the PKHD1 gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Helps in early diagnosis and family planning.
RET Gene Central Hypoventilation Syndrome Congenital Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the RET gene associated with congenital central hypoventilation syndrome (CCHS). Helps in early diagnosis and management.
PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PEX5 gene associated with Rhizomelic Chondrodysplasia Punctata (RCDP) type 5, a rare skeletal disorder.
Any Special Stain
The Any Special Stain test uses specialized staining techniques on tissue samples to help identify genetic abnormalities and aid in the diagnosis of genetic disorders.
NIPT Microdeletion
A non-invasive prenatal screening test to detect specific microdeletion syndromes in the fetus using cell-free fetal DNA from the mother's blood.
LIPI Gene Hypertriglyceridemia Susceptibility to Genetic Test
Understand your genetic predisposition to hypertriglyceridemia with the LIPI Gene Susceptibility Test. This genetic test uses NGS technology to analyze the LIPI gene, helping identify risks for metabolic disorders. Ideal for those with a family history or related symptoms.
Amino Acids Qualitative CSF Test
The Amino Acids Qualitative CSF Test helps identify inborn errors of metabolism by analyzing amino acid levels in cerebrospinal fluid (CSF).
Ckit Mutation Detection PCR Test
The Ckit Mutation Detection PCR Test identifies mutations in the C-KIT gene, often linked to leukemia. This test helps guide treatment decisions and understand disease progression.
SLC9A9 Gene Autism Susceptibility Type 16 Genetic Test
The SLC9A9 Gene Autism Susceptibility Type 16 NGS Genetic DNA Test identifies potential genetic predispositions linked to autism spectrum disorders, aiding in early diagnosis and informed decision-making. Confirm with the laboratory before booking.
KCNT1 Gene Epilepsy Nocturnal Frontal Lobe Genetic Test
This genetic test identifies mutations in the KCNT1 gene, which are associated with certain types of epilepsy, particularly nocturnal frontal lobe epilepsy. It uses Next Generation Sequencing (NGS) technology to help diagnose genetic causes of epilepsy and inform treatment decisions.
KPTN Gene Mental Retardation Autosomal Recessive Type 41 Genetic Test
Genetic test to identify mutations in the KPTN gene associated with certain types of mental retardation and developmental delays. Uses Next Generation Sequencing (NGS) technology.
ATP7A Gene Occipital Horn Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ATP7A gene, associated with neurological disorders like Occipital Horn Syndrome. Helps in diagnosis and management.
Diabetes and Obesity Panel Genetic Test
Identify your genetic predisposition to diabetes and obesity with our comprehensive NGS DNA test. Understand your risk factors and enable proactive health management.
MOGS Gene Glycosylation Disorder Type 2B Genetic Test
Genetic test to identify mutations in the MOGS gene associated with Glycosylation Disorder Type 2B, a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
COL4A4 Gene Alport Syndrome Autosomal Recessive Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the COL4A4 gene associated with the autosomal recessive form of Alport syndrome. This test helps diagnose inherited kidney, hearing, and eye disorders.
MTAP Gene Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma Genetic Test
This genetic test analyzes the MTAP gene using Next-Generation Sequencing (NGS) to help identify risks associated with diaphyseal medullary stenosis and malignant fibrous histiocytoma. It aids in understanding genetic predispositions related to certain bone and skin conditions.
SNX10 Gene Osteopetrosis of Infancy Malignant Genetic Test
This genetic test identifies mutations in the SNX10 gene associated with osteopetrosis, a rare bone disorder. Early diagnosis helps with timely management and intervention.
AGK Gene Sengers Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the AGK gene associated with Sengers syndrome, a rare cardiovascular pneumology disorder. Recommended for individuals with a family history or symptoms.
PRKCSH Gene Polycystic Liver Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PRKCSH gene associated with polycystic liver disease (PLD). Helps assess risk and inform management.
MECP2 Gene Central Hypoventilation Syndrome Congenital Genetic Test
This genetic test analyzes the MECP2 gene to help diagnose congenital central hypoventilation syndrome, a condition affecting breathing, particularly during sleep. It uses Next Generation Sequencing (NGS) technology.
HNRNPU Gene RNA Processing Related Disorders Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HNRNPU gene, associated with RNA processing disorders and developmental challenges.
Ataxia Gene Panel
The Ataxia Gene Panel is a genetic test to identify mutations associated with ataxia, a neurological disorder affecting coordination. This test helps diagnose the condition and guide management.
NPM1 Mutation Analysis Exon 12 Insertion
Detects specific genetic mutations in the NPM1 gene, often linked to acute myeloid leukemia (AML) and other blood disorders. This test helps guide diagnosis and treatment.
SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test
Genetic test to identify mutations in the SLC25A3 gene, associated with mitochondrial phosphate carrier deficiency and metabolic disorders. Helps understand genetic predispositions and guide treatment.
Amino Acids Quantitative Urine 45 Amino Acids Full Panel Test
This test measures 45 different amino acids in your urine to help identify potential inborn errors of metabolism. It provides insights into metabolic health and nutritional status.
Chd8 Gene Autism Susceptibility Type 18 Genetic Test
The Chd8 Gene Autism Susceptibility Type 18 NGS Genetic DNA Test analyzes the CHD8 gene to identify variations associated with autism spectrum disorders (ASD). This test can provide valuable insights for families seeking to understand genetic predispositions and guide decisions regarding diagnosis and intervention.
CHRNA4 Gene Epilepsy Nocturnal Frontal Lobe Type 1 Genetic Test
Genetic test to identify mutations in the CHRNA4 gene associated with nocturnal frontal lobe epilepsy. Utilizes Next-Generation Sequencing (NGS) technology.
PGAP1 Gene Mental Retardation Autosomal Recessive Type 42 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PGAP1 gene, associated with certain forms of intellectual disability and developmental delays. Confirm with the laboratory before booking.
MID1 Gene Opitz G Syndrome Genetic Test
Genetic test to identify mutations in the MID1 gene associated with Opitz G syndrome, a condition linked to neurological disorders. Confirm with the laboratory before booking.
CYP17A1 Gene 17-Hydroxylation Activity Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CYP17A1 gene, crucial for diagnosing metabolic disorders related to steroid hormone synthesis. Confirm with the laboratory before booking.
COG5 Gene Glycosylation Disorder Type 2I Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the COG5 gene associated with Glycosylation Disorder Type 2I, a metabolic disorder. Helps in early diagnosis and management.
COL4A5 Gene Alport Syndrome X-Linked Genetic Test
Genetic test to identify mutations in the COL4A5 gene associated with X-linked Alport syndrome, a condition affecting kidneys, hearing, and eyes.
Myo5B Gene Diarrhea Type 2 with Microvillus Atrophy Genetic Test
Genetic test to identify mutations in the MYO5B gene associated with severe diarrhea and microvillus atrophy, using Next-Generation Sequencing (NGS).
CLCN7 Gene Osteopetrosis Autosomal Dominant Type 1 Genetic Test
Genetic test to identify mutations in the CLCN7 gene associated with Osteopetrosis, Autosomal Dominant Type 1. Uses Next Generation Sequencing (NGS) technology.
KCNH2 Gene Short QT Syndrome Type 1 Genetic Test
Genetic test for mutations in the KCNH2 gene associated with Short QT Syndrome Type 1, a condition affecting heart rhythm. Uses Next Generation Sequencing (NGS) technology.
PKD2 Gene Polycystic Kidney Disease Type 2 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the PKD2 gene associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Recommended for individuals with a family history of kidney disorders.
ZEB2 Gene Central Hypoventilation Syndrome Congenital Genetic Test
This genetic test identifies mutations in the ZEB2 gene associated with congenital central hypoventilation syndrome (CCHS), aiding in early diagnosis and management, particularly for children.
Esco2 Gene Roberts Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ESCO2 gene associated with Roberts syndrome. Helps in diagnosing this rare genetic disorder.
Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel
A genetic test to identify mutations associated with Arthrogryposis Multiplex Congenita and Congenital Myasthenic Syndrome, aiding in diagnosis and management.
NPM1FLT3
The NPM1FLT3 test identifies specific genetic mutations in the NPM1 and FLT3 genes, aiding in the diagnosis and management of certain blood cancers like acute myeloid leukemia (AML).
HEXB Gene Sandhoff Disease Genetic Test
Genetic test to identify mutations in the HEXB gene associated with Sandhoff disease, a rare metabolic disorder. Useful for diagnosis and family planning.
Amino Acids Qualitative Urine Plasma Test
Detects inborn errors of metabolism, especially in children, by analyzing amino acid levels in urine and plasma. Helps in early diagnosis and management.
Ferric Chloride Test Urine Test
The Ferric Chloride Test Urine Test helps detect certain metabolic disorders, like phenylketonuria (PKU), using a urine sample. Early detection allows for timely management.
EIF4E Gene Autism Susceptibility Type 19 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the EIF4E gene associated with autism spectrum disorder (ASD) susceptibility. Aids in early diagnosis and intervention.
CHRNB2 Gene Epilepsy Nocturnal Frontal Lobe Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CHRNB2 gene for mutations associated with Nocturnal Frontal Lobe Epilepsy Type 3. Helps understand genetic factors contributing to epilepsy.
NDST1 Gene Mental Retardation Autosomal Recessive Type 46 Genetic Test
The NDST1 Gene Mental Retardation Autosomal Recessive Type 46 Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the NDST1 gene, which can be associated with neurological disorders and developmental delays. This test can provide valuable information for diagnosis and genetic counseling.
PANK2 Gene Pantothenate Kinase-Associated Neurodegeneration Genetic Test
Genetic test to identify mutations in the PANK2 gene associated with pantothenate kinase-associated neurodegeneration (PKAN), a neurological disorder. This test uses Next-Generation Sequencing (NGS) technology.
DECR1 Gene 24dienoylCoA Reductase 1 Genetic Test
The DECR1 Gene 24dienoylCoA Reductase 1 NGS Genetic DNA Test uses Next-Generation Sequencing to analyze the DECR1 gene, helping identify genetic predispositions to metabolic disorders. This test aids in early diagnosis and management.
TMEM165 Gene Glycosylation Disorder Type 2K Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TMEM165 gene associated with Glycosylation Disorder Type 2K, a metabolic disorder. Confirm with the laboratory before booking.
PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the PLCB4 gene associated with Auriculocondylar Syndrome Type 2, using Next Generation Sequencing (NGS) technology.
GUCY2C Gene Diarrhea Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the GUCY2C gene, helping identify genetic factors linked to chronic diarrhea.
TCIRG1 Gene Osteopetrosis Autosomal Recessive Type 1 Genetic Test
Genetic test to identify mutations in the TCIRG1 gene, which cause a rare bone disorder called osteopetrosis. Helps confirm diagnosis and guide management.
KCNQ1 Gene Short QT Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KCNQ1 gene associated with Short QT Syndrome Type 2, a rare cardiovascular disorder. Helps in early diagnosis and management.
SULT2A1 Gene Polycystic Ovary Syndrome Type 1 Genetic Test
Genetic test analyzing the SULT2A1 gene to identify potential genetic links to Polycystic Ovary Syndrome (PCOS).
SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SNAP29 gene for variations associated with Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome. Helps identify potential genetic disorders early.
ROR2 Gene Robinow Syndrome Autosomal Recessive Genetic Test
Genetic test to identify mutations in the ROR2 gene associated with Robinow syndrome, a condition affecting skeletal development and facial features. Utilizes Next-Generation Sequencing (NGS) technology.
Autism Gene Panel
The Autism Gene Panel is a genetic test to identify mutations associated with autism spectrum disorder (ASD). It helps understand genetic predispositions contributing to autism, aiding families and healthcare providers.
NPM1 FLT3 CEBPA
The NPM1 FLT3 CEBPA test identifies specific genetic mutations in the NPM1, FLT3, and CEBPA genes, often associated with acute myeloid leukemia (AML). This test aids in diagnosis and treatment planning.
N Meningitis RNA Detection Qualitative Test
Detects the presence of Neisseria meningitidis RNA to help diagnose meningococcal infection, a serious cause of meningitis. Confirm with the laboratory before booking.
Fermt1 Gene Kindler Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the FERMT1 gene associated with Kindler syndrome. Helps diagnose genetic disorders related to skin fragility and blistering.
Amino Acids Quantitative Blood 10 Amino Acids Test
Measures levels of ten essential amino acids in the blood to help diagnose inborn errors of metabolism. Important for identifying metabolic disorders and guiding treatment.
NLGN3 Gene Autism Susceptibility X-Linked Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the NLGN3 gene associated with autism spectrum disorder susceptibility. Helps understand genetic risk factors for neurological conditions.
Nsun2 Gene Mental Retardation Autosomal Recessive Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the NSUN2 gene, associated with autosomal recessive mental retardation. Recommended for individuals with a family history or symptoms of neurological disorders.
OFD1 Gene Oralfacialdigital Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the OFD1 gene associated with Oralfacialdigital Syndrome Type 1. Helps in diagnosing this rare genetic disorder.
NADK2 Gene 24-Dienoyl-CoA Reductase Deficiency Genetic Test
Genetic test to identify mutations in the NADK2 gene, which can cause metabolic disorders. Helps in early diagnosis and management.
COG4 Gene Glycosylation Disorder Type 2J Genetic Test
This genetic test identifies mutations in the COG4 gene, which are linked to Glycosylation Disorder Type 2J, a metabolic disorder. Early detection aids in management.
DIAPH3 Gene Auditory Neuropathy Autosomal Dominant Genetic Test
Genetic test to identify mutations in the DIAPH3 gene associated with autosomal dominant auditory neuropathy, aiding in the diagnosis and management of hereditary hearing loss.
ABCB6 Gene Dyschromatosis Universalis Hereditaria Type 3 Genetic Test
Genetic test to identify mutations in the ABCB6 gene associated with Dyschromatosis Universalis Hereditaria Type 3, a skin pigmentation disorder. Helps in early diagnosis and management.
TNFSF11 Gene Osteopetrosis Autosomal Recessive Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the TNFSF11 gene associated with Autosomal Recessive Osteopetrosis Type 2, a rare bone disorder.
KCNJ2 Gene Short QT Syndrome Type 3 Genetic Test
This genetic test identifies mutations in the KCNJ2 gene associated with Short QT Syndrome Type 3, a condition linked to cardiac arrhythmias. It helps assess genetic risk for individuals with relevant symptoms or family history.
SULT2B1 Gene Polycystic Ovary Syndrome Type 1 Genetic Test
This genetic test analyzes the SULT2B1 gene to identify variations associated with Polycystic Ovary Syndrome (PCOS), a common hormonal disorder. It uses Next Generation Sequencing (NGS) technology.
ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the ERCC6 gene associated with Cerebrooculofacioskeletal Syndrome Type 1, aiding in diagnosis for individuals with specific physical features and family history.
DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 Genetic Test
Genetic test to identify mutations in the DVL1 gene associated with Robinow syndrome, using Next Generation Sequencing (NGS) technology.
NRAS Mutation Analysis Codons 12 & 13
The NRAS Mutation Analysis Codons 12 & 13 test identifies specific genetic changes in the NRAS gene, which can influence certain cancers. This information helps guide treatment decisions.
Nipah Virus RNA Detection Qualitative Test
Detects the presence of the Nipah virus RNA, which causes severe respiratory illness and neurological complications. This test uses Real Time PCR technology.
SPRED1 Gene Legius Syndrome Genetic Test
Genetic test to identify mutations in the SPRED1 gene associated with Legius syndrome, a condition characterized by skin abnormalities and increased tumor risk.
Amino Acids Quantitative Urine Plasma 45 Amino Acids Full Panel Test
Comprehensive testing for 45 amino acids in urine and plasma to help diagnose inborn errors of metabolism. Essential for understanding metabolic health.
Metanephrines Free Plasma Test
The Metanephrines Free Plasma Test measures levels of metanephrines in the blood plasma. It helps evaluate conditions like hypertension and certain tumors (pheochromocytomas, paragangliomas).
Shank2 Gene Autism Susceptibility X-Linked Type 17 Genetic Test
The Shank2 Gene Autism Susceptibility X-Linked Type 17 NGS Genetic DNA Test identifies potential genetic predispositions to autism spectrum disorders linked to the SHANK2 gene. This test uses Next Generation Sequencing (NGS) technology to analyze genetic variations.
SCARB2 Gene Epilepsy Progressive Myoclonic Type 4 with or without Renal Failure Genetic Test
Genetic test to identify mutations in the SCARB2 gene associated with Progressive Myoclonic Epilepsy Type 4, which may include renal failure. Helps in diagnosis and understanding potential causes of neurological symptoms.
GPT2 Gene Mental Retardation Autosomal Recessive Type 49 Genetic Test
Genetic test to identify mutations in the GPT2 gene associated with certain neurological disorders and developmental delays. Uses Next Generation Sequencing (NGS) technology.
SCN4A Gene Paramyotonia Congenita of von Eulenburg Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SCN4A gene associated with Paramyotonia Congenita of von Eulenburg, a rare neurological disorder affecting muscle function.
DHTKD1 Gene 2-Aminoadipic 2-Oxoadipic Aciduria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DHTKD1 gene, associated with 2-aminoadipic 2-oxoadipic aciduria, a rare metabolic disorder affecting amino acid metabolism.
SLC35A2 Gene Glycosylation Disorder Type 2M Genetic Test
Genetic test to identify mutations in the SLC35A2 gene, associated with Glycosylation Disorder Type 2M. Uses Next Generation Sequencing (NGS) technology.
EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EYA1 gene associated with Branchiootic Syndrome Type 1, a condition affecting ear, nose, and throat (ENT) health.
NOP10 Gene Dyskeratosis Congenita Autosomal Recessive Type 1 Genetic Test
The NOP10 Gene Dyskeratosis Congenita Autosomal Recessive Type 1 Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the NOP10 gene, associated with dyskeratosis congenita. This test aids in diagnosing this rare genetic condition.
CA2 Gene Osteopetrosis Autosomal Recessive Type 3 Genetic Test
Genetic test to identify mutations in the CA2 gene associated with Autosomal Recessive Osteopetrosis Type 3, a rare bone disorder. Helps in diagnosis and management.
SCN5A Gene Sick Sinus Syndrome Type 1 Genetic Test
Genetic test for mutations in the SCN5A gene associated with Sick Sinus Syndrome (SSS), a heart rhythm disorder. Helps assess cardiovascular risk.
LHCGR Gene Precocious Puberty Male Genetic Test
Genetic test for males experiencing early puberty (precocious puberty). Uses Next Generation Sequencing (NGS) to analyze the LHCGR gene, helping identify genetic causes.
TFAP2B Gene Char Syndrome Genetic Test
Genetic test analysing the TFAP2B gene for mutations associated with dysmorphology using Next-Generation Sequencing (NGS).
TWIST1 Gene Robinow-Sorauf Syndrome Genetic Test
Genetic test for Robinow-Sorauf syndrome, analysing the TWIST1 gene using Next-Generation Sequencing (NGS) to identify mutations associated with the condition.
NPM1 CEBPA
The NPM1 CEBPA test identifies genetic mutations linked to blood disorders like acute myeloid leukemia (AML), aiding diagnosis and treatment planning.
COL2A1 Gene Legg-Calve-Perthes Disease Genetic Test
Genetic test to identify mutations in the COL2A1 gene associated with Legg-Calve-Perthes disease, a hip joint condition in children. Helps in early detection and management.
Amino Acids Quantitative Plasma 45 Amino Acids Full Panel Test
This test measures 45 amino acids in plasma to help diagnose inborn errors of metabolism. It's a key tool for identifying metabolic disorders, especially in children.
NLGN4X Gene Autism Susceptibility X-Linked Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the NLGN4X gene, assessing susceptibility to autism spectrum disorders. Useful for families with a history of autism.
Prickle2 Gene Epilepsy Progressive Myoclonic Type 5 Genetic Test
Genetic test to identify mutations in the PRICKLE2 gene associated with Progressive Myoclonic Epilepsy Type 5. Helps understand the genetic basis of epilepsy and guide management.
TUSC3 Gene Mental Retardation Autosomal Recessive Type 7 Genetic Test
This genetic test identifies mutations in the TUSC3 gene, associated with a specific type of autosomal recessive mental retardation. It uses Next Generation Sequencing (NGS) technology to analyze DNA samples, aiding in the diagnosis of neurological disorders.
ALX4 Gene Parietal Foraminal Type 2 Genetic Test
The ALX4 Gene Parietal Foraminal Type 2 Genetic Test uses Next-Generation Sequencing (NGS) to identify genetic variations in the ALX4 gene associated with certain neurological conditions. This test can provide valuable information for individuals with a family history or symptoms related to these conditions.
HSD3B2 Gene 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 Genetic Test
Genetic test to identify mutations in the HSD3B2 gene, associated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2, a metabolic disorder affecting steroid hormone production.
COG6 Gene Glycosylation Disorder Type 3 Genetic Test
Genetic test to identify mutations in the COG6 gene, associated with Glycosylation Disorder Type 3. Uses Next Generation Sequencing (NGS) for accurate diagnosis.
SLC52A3 Gene Brown-Vialetto-Van Laere Syndrome 1 Genetic Test
This genetic test identifies mutations in the SLC52A3 gene, which are linked to Brown-Vialetto-Van Laere syndrome, a rare condition affecting hearing and the nervous system. Recommended for individuals with specific neurological or hearing symptoms.
NHP2 Gene Dyskeratosis Congenita Autosomal Recessive Type 2 Genetic Test
Genetic test to identify mutations in the NHP2 gene associated with Dyskeratosis Congenita, Autosomal Recessive Type 2. Helps in understanding genetic predisposition and guiding health management.
CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 Genetic Test
Genetic test to identify mutations in the CLCN7 gene associated with Osteopetrosis, a rare bone disorder. Helps assess risk and guide management.
SCN5A Gene Sudden Infant Death Syndrome Susceptibility to Genetic Test
The SCN5A Gene Sudden Infant Death Syndrome (SIDS) Susceptibility test uses Next-Generation Sequencing (NGS) to identify genetic variations in the SCN5A gene linked to SIDS risk. This test can help families understand potential genetic predispositions.
FMR1 Gene Premature Ovarian Failure Type 1 Genetic Test
Genetic test for the FMR1 gene to assess risk for Premature Ovarian Failure (POF). Uses Next Generation Sequencing (NGS) to analyze CGG repeats.
CHD7 Gene CHARGE Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CHD7 gene, aiding in the diagnosis of CHARGE syndrome. Confirm with the laboratory before booking.
Crebbp Gene Rubinstein-Taybi Syndrome Genetic Test
Genetic test to identify mutations in the CREBBP gene associated with Rubinstein-Taybi syndrome. Helps in diagnosis and understanding the genetic basis of the condition.
Fermt3 Gene Leukocyte Adhesion Deficiency Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the Fermt3 gene for mutations associated with Leukocyte Adhesion Deficiency Type 3 (LAD-3), a rare immune disorder.
Clostridium Difficile Detection PCR Test
Detects the presence of Clostridium difficile bacteria toxins in stool samples using PCR technology. Essential for diagnosing C. difficile infections causing gastrointestinal symptoms.
MECP2 Gene Autism Susceptibility X-Linked Type 3 Genetic Test
Genetic test to identify mutations in the MECP2 gene associated with autism spectrum disorders. Uses Next Generation Sequencing (NGS) technology.
KCNC1 Gene Epilepsy Progressive Myoclonic Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the KCNC1 gene for mutations associated with Progressive Myoclonic Epilepsy Type 7. Helps in diagnosing and managing this neurological condition.
PUS3 Gene Mental Retardation Autosomal Recessive Type 55 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PUS3 gene, associated with a specific type of autosomal recessive mental retardation. Aids in diagnosing neurological disorders.
SNCA Gene PARK1 Parkinson Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SNCA gene associated with Parkinson's disease. Helps understand hereditary risk for neurological disorders.
ACADSB Gene 2-Methylbutyrylglycinuria Genetic Test
The ACADSB Gene 2-Methylbutyrylglycinuria NGS Genetic DNA Test identifies genetic variations associated with 2-methylbutyrylglycinuria, a metabolic disorder. This test uses Next-Generation Sequencing (NGS) technology to analyze the ACADSB gene.
DDOST Gene Glycosylation Disorder Type IR Genetic Test
Genetic test for DDOST gene mutations linked to Glycosylation Disorder Type IR, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
SLC52A2 Gene Brown-Vialetto-Van Laere Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLC52A2 gene, associated with Brown-Vialetto-Van Laere syndrome type 2, a rare neurological disorder. Helps diagnose and manage conditions involving progressive weakness and hearing loss.
TERT Gene Dyskeratosis Congenita Autosomal Recessive Type 4 Autosomal Dominant Type 2 Genetic Test
Genetic test for mutations in the TERT gene associated with Dyskeratosis Congenita. Uses Next-Generation Sequencing (NGS) on DNA samples. Recommended for individuals with a family history of the condition.
Ostm1 Gene Osteopetrosis Autosomal Recessive Type 5 Genetic Test
Genetic test to identify mutations in the OSTM1 gene associated with Osteopetrosis, Autosomal Recessive Type 5. Utilizes Next-Generation Sequencing (NGS) technology.
TSPYL1 Gene Sudden Infant Death with Dysgenesis of the Testes Syndrome Genetic Test
Genetic test for variations in the TSPYL1 gene associated with sudden infant death syndrome (SIDS) and dysgenesis of the testes. Helps identify potential genetic risks.
CACNA1D Gene Primary Aldosteronism Seizures and Neurologic Abnormalities Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CACNA1D gene, associated with primary aldosteronism, seizures, and neurologic abnormalities.
PIGL Gene CHIME Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PIGL gene associated with CHIME syndrome. Helps understand genetic risks and inform health decisions.
EP300 Gene Rubinstein-Taybi Syndrome Genetic Test
This genetic test identifies mutations in the EP300 gene associated with Rubinstein-Taybi syndrome, aiding in diagnosis and management.
MMP2 Gene Multicentric Osteolysis Nodulosis and Arthropathy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MMP2 gene for mutations associated with multicentric osteolysis, nodulosis, and arthropathy.
AML Categorization PCR Test
The AML Categorization PCR Test helps identify and classify acute myeloid leukemia (AML) subtypes using Real Time PCR to detect specific gene rearrangements, guiding effective treatment.
PTCHD1 Gene Autism Susceptibility X-Linked Type 4 Genetic Test
Genetic test evaluating susceptibility to autism linked to the PTCHD1 gene using Next Generation Sequencing (NGS). Helps identify potential genetic factors contributing to autism risk.
CHD2 Gene Epileptic Encephalopathy Childhood-Onset Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CHD2 gene associated with childhood-onset epileptic encephalopathy. Helps diagnose and understand the genetic basis of severe epilepsy.
RAB40AL Gene Mental Retardation X-Linked Genetic Test
This genetic test identifies mutations in the RAB40AL gene, which can be associated with X-linked mental retardation. It uses Next Generation Sequencing (NGS) technology for accurate analysis.
HTRA2 Gene PARK13 Parkinson Genetic Test
Genetic test analyzing the HTRA2 gene (PARK13) to assess predisposition to Parkinson's disease using Next-Generation Sequencing (NGS).
HMGCL Gene 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Genetic Test
Genetic test to identify mutations in the HMGCL gene, associated with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
SSR4 Gene Glycosylation Disorder Xlinked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SSR4 gene associated with X-linked glycosylation disorders. Helps diagnose metabolic conditions.
CATSPER2 Gene Deafness and Male Infertility CATSPER2 Related Genetic Test
Genetic test to identify mutations in the CATSPER2 gene associated with hearing loss and male infertility.
RTEL1 Gene Dyskeratosis Congenita Autosomal Recessive Type 5 Genetic Test
Genetic test to identify mutations in the RTEL1 gene, associated with Dyskeratosis Congenita Autosomal Recessive Type 5. Helps diagnose predispositions to related skin and immune disorders.
TNFRSF11A Gene Osteopetrosis Autosomal Recessive Type 7 Genetic Test
This genetic test identifies mutations in the TNFRSF11A gene associated with Osteopetrosis Autosomal Recessive Type 7, a rare bone disorder. It helps individuals with a family history or symptoms understand their risk and guide management.
GATA4 Gene Testicular Anomalies with or without Congenital Heart Disease Genetic Test
Genetic test analyzing the GATA4 gene to identify predispositions to testicular anomalies and/or congenital heart disease. Uses Next Generation Sequencing (NGS) technology.
NR3C2 Gene Pseudohypoaldosteronism Type 1 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the NR3C2 gene associated with pseudohypoaldosteronism type 1, an autosomal dominant condition. Helps in diagnosis and management.
IMPAD1 Gene Chondrodysplasia with Joint Dislocations GPAPP Type Genetic Test
Genetic test to identify mutations in the IMPAD1 gene associated with chondrodysplasia and joint dislocations. Aids in early diagnosis and management.
FGFR2 Gene Saethre-Chotzen Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FGFR2 gene associated with Saethre-Chotzen syndrome, a condition affecting skull and facial development.
BCR-ABL Variant Panel (Mbcr-b2a2, b3a2, b2a3)
The BCR-ABL Variant Panel detects specific genetic mutations (Mbcr-b2a2, b3a2, b2a3) associated with chronic myeloid leukemia (CML), aiding in diagnosis, treatment guidance, and monitoring.
Pan Enteric Bacteria RNA Detection Qualitative Test
Detects RNA from common enteric viruses causing gastrointestinal illness. Helps identify the cause of symptoms like severe diarrhea, vomiting, and abdominal pain.
NLRP3 Gene Mucklewells Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NLRP3 gene associated with Muckle-Wells syndrome. Helps diagnose the condition and understand hereditary risks.
AML ETO T821 Gene Rearrangement PCR Qualitative Test
Detects specific genetic rearrangements associated with acute myeloid leukemia (AML) using PCR. Helps guide diagnosis and treatment planning.
Methylmalonic Acid Qualitative Urine Test
The Methylmalonic Acid Qualitative Urine Test helps detect metabolic disorders, particularly those linked to vitamin B12 deficiency. This test measures methylmalonic acid levels in urine to identify potential health issues.
RPL10 Gene Autism Susceptibility X-Linked Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the RPL10 gene for variations potentially linked to autism spectrum disorder (ASD).
SYN1 Gene Epilepsy X-Linked with Learning Disabilities and Behavior Disorders Genetic Test
Genetic test analyzing the SYN1 gene to identify mutations linked to X-linked epilepsy, learning disabilities, and behavioral disorders. Helps inform diagnosis and management.
UBE2A Gene Mental Retardation X-Linked Syndromic Nascimento-Type Genetic Test
This genetic test identifies mutations in the UBE2A gene, which can be linked to X-linked syndromic intellectual disability (Nascimento-type). It uses Next Generation Sequencing (NGS) technology to analyze DNA.
PLA2G6 Gene PARK14 Parkinson Genetic Test
The PLA2G6 Gene PARK14 Parkinson NGS Genetic DNA Test identifies mutations in the PLA2G6 gene linked to Parkinson's disease. This test uses Next Generation Sequencing (NGS) to assess genetic risk for neurological conditions. Confirm with the laboratory before booking.
HMGCS2 Gene 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HMGCS2 gene, aiding in the diagnosis of 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency, a metabolic disorder. Confirm with the laboratory before booking.
GLB1 Gene GM1-Gangliosidosis Type 1 Genetic Test
The GLB1 Gene GM1-Gangliosidosis Type 1 NGS Genetic DNA Test identifies mutations in the GLB1 gene associated with GM1-gangliosidosis, a rare metabolic disorder. This test aids in diagnosing the condition, particularly for individuals with relevant symptoms or family history.
Ptpn23 Gene Ciliogenesis Related Disorder Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PTPN23 gene associated with ciliogenesis-related disorders, often affecting the ear, nose, and throat (ENT).
ACD Gene Dyskeratosis Congenita Autosomal Recessive Type 7 Genetic Test
Genetic test to identify variations in the ACD gene associated with Dyskeratosis Congenita, Autosomal Recessive Type 7. This test uses Next Generation Sequencing (NGS) technology.
Plekhm1 Gene Osteopetrosis Autosomal Recessive Type 6 Genetic Test
Genetic test to detect mutations in the PLEKHM1 gene, associated with autosomal recessive osteopetrosis, a rare bone disorder. Helps in diagnosis and family planning.
ALDH1A2 Gene Tetralogy of Fallot Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ALDH1A2 gene associated with Tetralogy of Fallot (ToF), a congenital heart defect.
CLCN5 Gene Proteinuria Low Molecular Weight with Hypercalciuric Nephrocalcinosis Genetic Test
Genetic test for CLCN5 gene mutations associated with low molecular weight proteinuria and hypercalciuric nephrocalcinosis. Helps diagnose genetic kidney conditions.
PTH1R Gene Chondrodysplasia Blomstrand Type Genetic Test
Genetic test to identify mutations in the PTH1R gene associated with Chondrodysplasia Blomstrand type, using Next Generation Sequencing (NGS).
ESCO2 Gene SC Phocomelia Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ESCO2 gene for mutations associated with phocomelia syndrome, a condition involving limb malformations. Suitable for individuals with symptoms or a family history of related conditions.
BCRABL1 Kinase Domain Mutation Analysis IRMA
Detects mutations in the BCR-ABL1 gene, crucial for managing chronic myeloid leukemia (CML) and guiding treatment decisions. Confirm with the laboratory before booking.
PMLRARA Quantitative Test
The PMLRARA Quantitative Test measures specific viral markers in the blood to help diagnose and monitor certain viral diseases. This test provides crucial information for guiding treatment decisions.
JAGN1 Gene Neutropenia Severe Congenital Type 6 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the JAGN1 gene associated with severe congenital neutropenia, a condition causing low neutrophil levels. Utilizes Next-Generation Sequencing (NGS) technology.
AML ETO T821 Gene Rearrangement Quantitative MRD Monitor Test
Monitor treatment effectiveness for certain cancers, particularly Acute Myeloid Leukemia (AML), by detecting minimal residual disease (MRD) using the AML ETO T821 Gene Rearrangement Quantitative MRD Monitor Test.
Methylguanine Methyltransferase MGMT Test
The Methylguanine Methyltransferase (MGMT) Test helps guide cancer treatment decisions, particularly for glioblastoma, by assessing the tumor's response to certain therapies.
Prothrombin Gene Mutation Analysis Test
The Prothrombin Gene Mutation Analysis Test identifies genetic mutations in the prothrombin gene (F2) that increase the risk of blood clots (thromboembolic disorders).
TMLHE Gene Autism Susceptibility X-Linked Type 6 Genetic Test
The TMLHE Gene Autism Susceptibility X-Linked Type 6 NGS Genetic DNA Test identifies mutations in the TMLHE gene associated with autism spectrum disorders. This test uses Next-Generation Sequencing (NGS) technology to provide insights into genetic predispositions, aiding in early diagnosis and management, particularly for families with a history of autism.
MAPK10 Gene Epileptic Encephalopathy Lennox-Gastaut Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MAPK10 gene associated with Lennox-Gastaut syndrome, a severe form of epilepsy. Helps in diagnosis and personalized treatment.
SLC9A6 Gene Mental Retardation X-Linked Syndromic Christianson Type Genetic Test
Genetic test to identify mutations in the SLC9A6 gene, associated with X-linked syndromic mental retardation (Christianson syndrome). Helps diagnose neurological disorders.
VPS35 Gene PARK17 Parkinson Genetic Test
The VPS35 Gene PARK17 Parkinson NGS Genetic DNA Test assesses genetic risk for Parkinson's disease by analyzing the VPS35 gene using Next-Generation Sequencing (NGS).
HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test
Genetic test for 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH) using Next-Generation Sequencing (NGS) to identify mutations related to metabolic disorders.
HEXB Gene GM2gangliosidosis Type 2 Genetic Test
This genetic test identifies mutations in the HEXB gene, which cause GM2 gangliosidosis type 2, a rare metabolic disorder. Early diagnosis helps with management and treatment.
GJB2 Gene Deafness with Keratopachydermia and Constrictions of Fingers and Toes Genetic Test
This genetic test identifies variations in the GJB2 gene associated with hearing loss, keratopachydermia, and constrictions of fingers and toes. It uses Next-Generation Sequencing (NGS) technology.
PARN Gene Dyskeratosis Congenita Autosomal Recessive Type 6 Genetic Test
Genetic test to identify mutations in the PARN gene associated with Dyskeratosis Congenita, Autosomal Recessive Type 6. Helps in diagnosis and understanding hereditary risks.
Lrp5 Gene Osteoporosis Pseudoglioma Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the LRP5 gene, identifying potential predispositions to osteoporosis and pseudoglioma syndrome. Helps inform proactive health management.
GATA4 Gene Tetralogy of Fallot Genetic Test
Genetic test analyzing the GATA4 gene to identify mutations associated with Tetralogy of Fallot, a congenital heart defect. Provides insights for diagnosis, treatment, and family planning.
SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test
Genetic test for mutations in the SCNN1A gene associated with Pseudohypoaldosteronism Type 1, an autosomal recessive condition affecting electrolyte balance. Helps diagnose and manage this rare disorder.
CHM Gene Choroideremia Genetic Test
Genetic test to detect mutations in the CHM gene, responsible for Choroideremia, a rare inherited eye disorder causing progressive vision loss. Utilizes Next-Generation Sequencing (NGS) technology.
FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation Genetic Test
This genetic test analyzes the FGFR2 gene to help diagnose conditions associated with specific craniofacial abnormalities like scaphocephaly and maxillary retrusion. Confirm with the laboratory before booking.
NUDT15 Gene Mutation Analysis
The NUDT15 Gene Mutation Analysis identifies variations in the NUDT15 gene, which can affect how your body processes certain medications. This test helps guide treatment decisions, particularly for specific cancer and autoimmune therapies, potentially improving safety and effectiveness.
VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the VPS45 gene associated with Severe Congenital Neutropenia Type 5, an autosomal recessive condition. It helps diagnose the genetic cause of low neutrophil counts.
Methylmalonic Acid Quantitative Serum Test
This test measures methylmalonic acid levels in the blood to help detect vitamin B12 deficiency and other nutritional issues. It is useful for individuals experiencing symptoms related to vitamin deficiencies.
ATP1B4 Gene Autism ATP1B4 Related Genetic Test
Genetic test analyzing the ATP1B4 gene using Next-Generation Sequencing (NGS) to identify variations linked to autism spectrum disorders.
KCNA1 Gene Episodic Ataxia Type 1 Genetic Test
This genetic test analyzes the KCNA1 gene to identify mutations associated with Episodic Ataxia Type 1, a neurological disorder. It uses Next Generation Sequencing (NGS) technology.
HUWE1 Gene Mental Retardation X-Linked Syndromic Turner Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HUWE1 gene, associated with X-linked mental retardation and Turner syndrome features. Helps diagnose developmental delays and neurological disorders.
FBXO7 Gene PARK15 Parkinson Genetic Test
Genetic test analyzing the FBXO7 gene (PARK15) to identify potential genetic links to Parkinson's disease risk. Utilizes Next-Generation Sequencing (NGS).
HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency Genetic Test
The HIBCH Gene 3-Hydroxyisobutryl-CoA Hydrolase Deficiency NGS Genetic DNA Test helps diagnose metabolic disorders linked to the HIBCH gene using advanced Next-Generation Sequencing (NGS) technology. This test is important for individuals with symptoms or a family history of related conditions.
GLB1 Gene GM1gangliosidosis Type 2 Genetic Test
This genetic test identifies mutations in the GLB1 gene associated with GM1 gangliosidosis type 2, a serious metabolic disorder. Early diagnosis helps guide management and treatment.
Diaph1 Gene Deafness Autosomal Dominant Type 1 Genetic Test
Genetic test to identify mutations in the DIAPH1 gene associated with autosomal dominant hearing loss. Helps diagnose hereditary hearing loss and inform family planning.
Dkc1 Gene Dyskeratosis Congenita Xlinked Genetic Test
Test for mutations in the DKC1 gene associated with Dyskeratosis Congenita, a rare genetic disorder. Helps in early diagnosis and management.
KRT16 Gene Pachyonychia Congenita Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KRT16 gene associated with Pachyonychia Congenita, a rare skin and nail disorder. Aids in diagnosis and management.
ZFPM2 Gene Tetralogy of Fallot Genetic Test
Genetic test analyzing the ZFPM2 gene for mutations associated with Tetralogy of Fallot, a congenital heart defect. Helps identify genetic risks for early management.
SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test
Genetic test for mutations in the SCNN1B gene associated with Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1). Helps diagnose this rare condition affecting salt and water balance.
BMPR1B Gene Chondrodysplasia Acromesomelic with Genital Anomalies Genetic Test
This genetic test identifies mutations in the BMPR1B gene, associated with skeletal and genital anomalies like acromesomelic dysplasia. It uses Next Generation Sequencing (NGS) technology.
MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MAGEL2 gene associated with Schaaf-Yang syndrome. Helps diagnose this rare genetic disorder, particularly in children.
BCR-ABL1 Quantitative p210p190p230
The BCR-ABL1 Quantitative p210p190p230 test measures the levels of specific genetic markers associated with Chronic Myeloid Leukemia (CML) and Acute Lymphoblastic Leukemia (ALL). It helps in diagnosing and monitoring these conditions.
Oncomine Breast cfTNA Assay
The Oncomine Breast cfTNA Assay is a genetic test that analyzes circulating tumor DNA (ctDNA) from a blood sample to detect specific genetic alterations associated with breast cancer, aiding in personalized treatment decisions.
Parvo Virus B19 RNA Detection Qualitative Test
Detects the presence of Parvovirus B19 RNA in respiratory secretions to diagnose infections caused by this virus, which can lead to conditions like fifth disease or anemia.
CAST Gene Peeling Skin with Leukonychia Acral Punctate Keratoses Cheilitis and Knuckle Pads Genetic Test
Genetic test for the CAST gene to help understand the cause of specific skin conditions like peeling skin, leukonychia, keratoses, cheilitis, and knuckle pads.
Fibromyalgia Panel Test
The Fibromyalgia Panel Test helps assess factors associated with musculoskeletal disorders like fibromyalgia. It measures components including CMV IgG, Selenium, RA factor, and more. Confirm with the laboratory before booking.
Methylmalonic Acid Quantitative Urine Test
The Methylmalonic Acid Quantitative Urine Test measures levels of methylmalonic acid in urine to help diagnose metabolic disorders, particularly Vitamin B12 deficiency. Confirm with the laboratory before booking.
Varicella Zoster Virus VZV Qualitative PCR Test
Detects the Varicella Zoster Virus (VZV), which causes chickenpox and shingles, using a qualitative PCR test. Essential for early diagnosis and management.
AVPR1A Gene Autism AVPR1A Related Genetic Test
The AVPR1A Gene Autism test uses Next-Generation Sequencing (NGS) to analyze the AVPR1A gene, which may be linked to autism spectrum disorders. This genetic assessment can help identify potential genetic factors contributing to autism.
CACNA1A Gene Episodic Ataxia Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CACNA1A gene associated with Episodic Ataxia Type 2. Helps diagnose neurological disorders affecting balance and coordination.
ZDHHC9 Gene Mental Retardation X-Linked Syndromic Raymond Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ZDHHC9 gene, associated with X-linked syndromic mental retardation (Raymond type). Helps diagnose genetic causes of neurological disorders.
DNAJC6 Gene PARK19 Parkinson Juvenile-Onset Genetic Test
Genetic test to identify mutations in the DNAJC6 gene associated with juvenile-onset Parkinson's disease. Helps assess risk and inform management.
MCCC1 Gene 3-Methylcrontonyl-CoA Carboxylase 1 Deficiency Genetic Test
Genetic test to identify mutations in the MCCC1 gene, associated with 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency, a rare metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
GAMT Gene Guanidinoacetate Methyltransferase Deficiency Genetic Test
This genetic test identifies mutations in the GAMT gene, helping diagnose Guanidinoacetate Methyltransferase deficiency, a rare metabolic disorder. Early diagnosis is key for managing potential neurological issues.
EYA4 Gene Deafness Autosomal Dominant Type 10 Genetic Test
This genetic test identifies mutations in the EYA4 gene associated with autosomal dominant hearing loss, using Next-Generation Sequencing (NGS) technology. It helps diagnose genetic hearing loss and understand family risk.
KRT85 Gene Ectodermal Dysplasia Type 4 Hair/Nail Type Genetic Test
Genetic test analyzing the KRT85 gene to help diagnose Ectodermal Dysplasia Type 4, a condition affecting hair and nails. Confirm with the laboratory before booking.
KRT17 Gene Pachyonychia Congenita Type 2 Genetic Test
The KRT17 Gene Pachyonychia Congenita Type 2 Genetic Test identifies mutations in the KRT17 gene associated with Pachyonychia Congenita Type 2, a condition affecting nails, skin, and oral tissues. This test uses Next Generation Sequencing (NGS) technology.
GATA6 Gene Tetralogy of Fallot Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GATA6 gene associated with Tetralogy of Fallot (ToF), a congenital heart defect. Helps in understanding genetic risks for cardiovascular conditions.
SCNN1G Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test
Genetic test for mutations in the SCNN1G gene associated with Pseudohypoaldosteronism Type 1, an autosomal recessive condition affecting kidney function and electrolyte balance.
GPSM2 Gene Chudley-McCullough Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GPSM2 gene associated with Chudley-McCullough syndrome, particularly relevant for pediatric patients with dysmorphology.
EMX2 Gene Schizencephaly Genetic Test
This genetic test identifies mutations in the EMX2 gene associated with Schizencephaly, a rare brain malformation. It helps families understand genetic risks and informs diagnosis and management.
Benign Infantile Epilepsy Gene Panel
A genetic test to identify potential genetic causes of epilepsy in infants, aiding in diagnosis and treatment planning.
Oncomine Comprehensive Assay
The Oncomine Comprehensive Assay is an advanced genetic test using Next-Generation Sequencing (NGS) to analyze tumor tissue for mutations. It helps guide personalized cancer treatment plans. A doctor's prescription is required.
Kit Gene Piebaldism Genetic Test
Genetic test to identify mutations in the KIT gene associated with Piebaldism, a condition affecting skin and hair pigmentation. Helps in diagnosis and family planning.
MI Molecular Intelligence Profile Test
The MI Molecular Intelligence Profile Test is a comprehensive genomic analysis for cancer patients, providing detailed insights into tumor characteristics to guide personalized treatment.
Celf6 Gene Autism Celf6 Related Genetic Test
Genetic test analyzing the CELF6 gene for variations associated with autism spectrum disorders (ASD).
CACNB4 Gene Episodic Ataxia Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CACNB4 gene, associated with Episodic Ataxia Type 5. Helps identify genetic predispositions to neurological disorders.
IQSEC2 Gene Mental Retardation X-Linked Type 1 Genetic Test
This genetic test identifies mutations in the IQSEC2 gene, associated with X-linked intellectual disability. It uses Next-Generation Sequencing (NGS) technology to provide accurate results for individuals with developmental delays or a family history of neurological disorders.
PRKN Gene PARK2 Parkinson Genetic Test
The PRKN Gene PARK2 Parkinson NGS Genetic DNA Test identifies genetic variations linked to Parkinson's disease using Next-Generation Sequencing (NGS) technology. This test helps assess risk and inform health decisions.
MCCC2 Gene 3-Methylcrontonyl-CoA Carboxylase 2 Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MCCC2 gene, associated with metabolic disorders. Helps diagnose conditions and understand genetic risks.
HPD Gene Hawkinsinuria Genetic Test
Detects genetic mutations linked to Hawkinsinuria, a rare metabolic disorder, using Next Generation Sequencing (NGS) technology. Helps identify risks and guide management.
Tecta Gene Deafness Autosomal Dominant Type 12 Genetic Test
Genetic test to identify mutations in the TECTA gene associated with autosomal dominant hearing loss. Uses Next Generation Sequencing (NGS) technology.
CDH3 Gene Ectodermal Dysplasia Ectrodactyly and Macular Dystrophy Genetic Test
Genetic test analyzing the CDH3 gene to identify mutations associated with ectodermal dysplasia, ectrodactyly, and macular dystrophy. Helps in understanding genetic risks and informing management.
KRT6A Gene Pachyonychia Congenita Type 3 Genetic Test
Genetic test to identify mutations in the KRT6A gene associated with Pachyonychia Congenita Type 3, a condition affecting skin and nails.
MED13L Gene Transposition of the Great Arteries Dextrolooped 1 Genetic Test
Genetic test analyzing the MED13L gene to identify mutations associated with transposition of the great arteries, a congenital heart defect. Utilizes Next Generation Sequencing (NGS) technology.
GNAS Gene Pseudohypoparathyroidism Type 1A Genetic Test
Genetic test to identify mutations in the GNAS gene associated with Pseudohypoparathyroidism Type 1A, a disorder affecting calcium metabolism. Utilizes Next-Generation Sequencing (NGS) technology.
MEIS2 Gene Cleft Palate Cardiac Defects and Mental Retardation Genetic Test
Genetic test to identify mutations in the MEIS2 gene, associated with conditions like cleft palate, cardiac defects, and developmental delays.
SETBP1 Gene Schinzel-Giedion Midface Retraction Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SETBP1 gene, associated with Schinzel-Giedion midface retraction syndrome and other developmental disorders. Helps diagnose dysmorphology.
Beta Thalassemia 12 Common Mutations Screening Single
Screening test to identify 12 common genetic mutations associated with beta thalassemia, a condition affecting hemoglobin production. Helps in early diagnosis and management.
Plasmodium Species RNA Detection Qualitative Test
Detects the presence of malaria-causing Plasmodium parasites in the blood using RNA detection. Essential for early diagnosis and treatment of malaria.
COMP Gene Pseudoachondroplasia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the COMP gene associated with pseudoachondroplasia, a condition affecting bone and cartilage development.
Micm Maternal Inherited Cardiomyopathy Mutation Detection Test
Detects genetic mutations linked to maternal inherited cardiomyopathy, aiding in early diagnosis and management of heart conditions. Essential for those with a family history of heart disease.
C7orf43 Gene Autism C7orf43 Related Genetic Test
Genetic test analyzing the C7orf43 gene for variations associated with autism spectrum disorders (ASD). Helps understand genetic predispositions.
SLC1A3 Gene Episodic Ataxia Type 6 Genetic Test
Genetic test to identify mutations in the SLC1A3 gene associated with Episodic Ataxia Type 6, a neurological disorder. Helps diagnose hereditary ataxia.
Ddx3x Gene Mental Retardation Xlinked Type 102 Genetic Test
This genetic test identifies mutations in the DDX3X gene, which are associated with X-linked intellectual disabilities and developmental delays. It uses Next Generation Sequencing (NGS) technology for accurate analysis.
SYNJ1 Gene PARK20 Parkinson Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the SYNJ1 gene for mutations associated with Parkinson's disease (PARK20). Helps identify genetic risk factors.
AUH Gene 3-Methylglutaconic Aciduria Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the AUH gene associated with 3-Methylglutaconic Aciduria Type 1, a rare metabolic disorder. Helps diagnose the condition and inform management.
SLC6A19 Gene Hartnup Disorder Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SLC6A19 gene associated with Hartnup disorder, a rare metabolic condition. Helps in diagnosis and management.
Myo7A Gene Deafness Autosomal Dominant Type 11 Genetic Test
Genetic test to identify mutations in the MYO7A gene associated with hereditary hearing loss (Deafness Autosomal Dominant Type 11).
EDAR Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Genetic Test
Genetic test analyzing the EDAR gene to detect mutations associated with hypohidrotic ectodermal dysplasia, a condition affecting hair, teeth, and sweat glands.
KRT6B Gene Pachyonychia Congenita Type 4 Genetic Test
Genetic test to identify mutations in the KRT6B gene associated with Pachyonychia Congenita Type 4, a rare skin disorder. Helps in diagnosis and management.
SCN5A Gene Ventricular Fibrillation Paroxysmal Familial Type 1 Genetic Test
This genetic test analyzes the SCN5A gene to identify mutations linked to Paroxysmal Familial Ventricular Fibrillation, a serious heart condition. It is recommended for individuals with a family history of cardiac issues.
WNK4 Gene Pseudohypoaldosteronism Type 2B Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the WNK4 gene associated with Pseudohypoaldosteronism Type 2B, a condition affecting kidney function and electrolyte balance.
PITX1 Gene Club Foot Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PITX1 gene, associated with clubfoot. Helps identify genetic predispositions for families with a history of this condition.
SLC35D1 Gene Schneckenbecken Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLC35D1 gene, associated with Schneckenbecken dysplasia and other developmental disorders. Helps diagnose genetic conditions, particularly in children.
Beta Thalassemia Screening Prenatal
Prenatal screening test to detect beta thalassemia in an unborn baby. Helps expectant parents understand potential risks and make informed decisions.
Proteus Vulgaris RNA Detection Qualitative Test
Detects the presence of Proteus Vulgaris bacteria RNA in urine or stool samples. This test helps identify potential infections early for timely treatment.
AFF3 Gene Rheumatoid Arthritis Susceptibility to Genetic Test
This genetic test assesses your predisposition to rheumatoid arthritis by analyzing the AFF3 gene using Next-Generation Sequencing (NGS). Understanding your genetic risk can help inform health decisions.
FIP1L1PGDFRA Gene Rearrangement Detection Test
This genetic test detects rearrangements in the FIP1L1 and PDGFRA genes, which can be associated with certain blood disorders. It helps guide diagnosis and treatment.
Mi Molecular Intelligence Tumor Seek Test
The Mi Molecular Intelligence Tumor Seek Test uses advanced molecular techniques to analyze tumor samples, providing oncologists with crucial insights for personalized cancer treatment planning.
EFCAB13 Gene Autism EFCAB13 Related Genetic Test
Genetic test analyzing the EFCAB13 gene to identify potential genetic factors associated with autism spectrum disorders using Next-Generation Sequencing (NGS).
SCN10A Gene Episodic Pain Syndrome Type 2 Familial Genetic Test
Genetic test to identify mutations in the SCN10A gene associated with episodic pain syndromes. Helps understand genetic predispositions to neurological disorders.
MID2 Gene Mental Retardation Xlinked Type 101 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MID2 gene, associated with X-linked mental retardation. Provides insights for diagnosis and family planning.
DNAJC13 Gene PARK21 Parkinson Genetic Test
Genetic test for mutations in the DNAJC13 gene (PARK21) associated with Parkinson's disease risk. Uses Next Generation Sequencing (NGS).
OPA3 Gene 3-Methylglutaconic Aciduria Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the OPA3 gene, associated with 3-Methylglutaconic Aciduria Type 3, a metabolic disorder. Confirm with the laboratory before booking.
ABCA1 Gene HDL Deficiency Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the ABCA1 gene associated with HDL deficiency, a metabolic disorder. Helps understand genetic predisposition and manage cardiovascular risk.
COL11A2 Gene Deafness Autosomal Dominant Type 13 Genetic Test
This genetic test identifies mutations in the COL11A2 gene associated with autosomal dominant hearing loss. It is recommended for individuals with a family history of hearing impairment or related symptoms.
GJB6 Gene Ectodermal Dysplasia Hidrotic Genetic Test
This genetic test analyzes the GJB6 gene to identify mutations associated with hidrotic ectodermal dysplasia, a condition affecting skin, hair, and nails. Confirm with the laboratory before booking.
SQSTM1 Gene Paget Disease of Bone Genetic Test
Genetic test to identify mutations in the SQSTM1 gene associated with Paget's disease of bone. Helps in early diagnosis and management.
GATA4 Gene Ventricular Septal Defect Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GATA4 gene associated with Ventricular Septal Defect Type 1. Helps understand genetic risk for heart defects.
GNAS Gene Pseudohypoparathyroidism Type 1B Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GNAS gene associated with Pseudohypoparathyroidism Type 1B, a condition affecting calcium and phosphate regulation. Confirm with the laboratory before booking.
ERCC6 Gene Cockayne Syndrome Type B Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ERCC6 gene, aiding in the diagnosis of Cockayne Syndrome Type B. This test helps understand genetic predispositions and informs management strategies.
ATRIP Gene Seckel Syndrome Genetic Test
Genetic test to identify mutations in the ATRIP gene associated with Seckel syndrome, a condition affecting growth and development. Utilizes Next-Generation Sequencing (NGS) technology.
Beta Thalassemia-9 Common Mutations Screening Couple
Screening for both partners to identify common genetic mutations linked to Beta Thalassemia, a blood disorder. Helps couples understand risks before family planning.
Oncomine Comprehensive Plus Panel
The Oncomine Comprehensive Plus Panel is a genetic test analyzing tumor tissue for mutations associated with cancer, guiding personalized treatment decisions. Confirm with the laboratory before booking.
ABCC6 Gene Pseudoxanthoma Elasticum Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ABCC6 gene associated with pseudoxanthoma elasticum (PXE), a disorder affecting connective tissue.
Venous Thrombosis Risk Analysis Panel Test
Assess your genetic predisposition to blood clots with the Venous Thrombosis Risk Analysis Panel Test. This test identifies key mutations like Factor V Leiden, Prothrombin Gene, and MTHFR, helping you understand your risk for thromboembolic disorders.
FAAH2 Gene Autism FAAH2 Related Genetic Test
The FAAH2 Gene Autism Genetic Test uses Next-Generation Sequencing (NGS) to identify genetic variations in the FAAH2 gene associated with autism spectrum disorders. This test provides insights for understanding neurological conditions.
SCN11A Gene Episodic Pain Syndrome Type 3 Familial Genetic Test
Genetic test for mutations in the SCN11A gene associated with episodic pain syndromes. Recommended for individuals with a family history or symptoms of these conditions.
MECP2 Gene Mental Retardation X-Linked Type 13 Genetic Test
This genetic test identifies mutations in the MECP2 gene, associated with certain neurological disorders and developmental delays. It uses Next Generation Sequencing (NGS) technology.
SNCA Gene PARK4 Parkinson Genetic Test
The SNCA Gene PARK4 Parkinson NGS Genetic DNA Test assesses genetic risk factors for Parkinson's disease by analyzing the SNCA gene. This test uses Next-Generation Sequencing (NGS) technology to identify specific genetic markers linked to the condition.
CLPB Gene 3-Methylglutaconic Aciduria Type 7 with Cataracts Neurologic Involvement and Neutropenia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CLPB gene associated with 3-Methylglutaconic Aciduria Type 7, which can cause cataracts, neurological issues, and neutropenia.
HFE Gene Hemochromatosis Classical Genetic Test
Genetic test to identify mutations in the HFE gene associated with hereditary hemochromatosis, a condition causing excessive iron accumulation. Early detection helps prevent serious health complications.
Pou4f3 Gene Deafness Autosomal Dominant Type 15 Genetic Test
Genetic test to identify mutations in the Pou4f3 gene associated with autosomal dominant hearing loss. Helps understand hereditary deafness and inform health decisions.
EDARADD Gene Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Genetic Test
Genetic test to identify mutations in the EDARADD gene associated with hypohidrotic ectodermal dysplasia. Uses Next Generation Sequencing (NGS) technology.
TNFRSF11B Gene Paget Disease Juvenile Genetic Test
Genetic test to identify mutations in the TNFRSF11B gene associated with juvenile Paget disease, aiding in diagnosis and management.
CITED2 Gene Ventricular Septal Defect Type 2 Genetic Test
Genetic test analyzing the CITED2 gene to identify mutations associated with Ventricular Septal Defect Type 2, a congenital heart condition. Uses Next-Generation Sequencing (NGS) technology.
GNAS Gene Pseudopseudohypoparathyroidism Genetic Test
Genetic test to identify mutations in the GNAS gene associated with pseudopseudohypoparathyroidism, a condition affecting calcium and phosphate regulation. Recommended for individuals with symptoms or family history of related endocrine disorders.
ERCC8 Gene Cockayne Syndrome Type A Genetic Test
Genetic test to identify mutations in the ERCC8 gene associated with Cockayne syndrome Type A, aiding in early diagnosis and management.
ATR Gene Seckel Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ATR gene associated with Seckel syndrome. Helps identify genetic predispositions and guide medical decisions.
Beta Thalassemia-9 Common Mutations Screening (Single)
This genetic test screens for nine common mutations linked to Beta Thalassemia, a blood disorder affecting hemoglobin. Early detection aids in management and family planning.
Oncomine Focus Panel
The Oncomine Focus Panel is a genetic test using Next Generation Sequencing (NGS) to detect specific mutations in tumor tissue associated with various cancers. This information helps guide personalized treatment decisions.
Pseudomonas Aeruginosa RNA Detection Qualitative Test
Detects the presence of Pseudomonas Aeruginosa bacteria, often associated with respiratory infections, especially in cystic fibrosis patients. This test uses RNA detection technology.
Foxn1 Gene Tcell Immunodeficiency Congenital Alopecia and Nail Dystrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FOXN1 gene associated with T-cell immunodeficiency, congenital alopecia, and nail dystrophy.
Very Long Chain Fatty Acids Test
The Very Long Chain Fatty Acids Test helps diagnose genetic disorders affecting fatty acid metabolism by measuring specific fatty acid levels in the blood. Early detection aids in effective management.
FCRL6 Gene Autism FCRL6 Related Genetic Test
Genetic test analyzing the FCRL6 gene to understand its potential role in autism spectrum disorders (ASD). Provides insights for families affected by autism.
SCN9A Gene Erythermalgia Primary Genetic Test
This genetic test identifies mutations in the SCN9A gene associated with erythermalgia, a rare neurological disorder causing burning pain. It uses Next-Generation Sequencing (NGS) to provide precise genetic insights for diagnosis and treatment guidance.
UPF3B Gene Mental Retardation X-Linked Type 14 Genetic Test
Genetic test to identify mutations in the UPF3B gene, associated with X-linked intellectual disability. Helps diagnose the genetic basis of neurological disorders.
UCHL1 Gene PARK5 Parkinson Genetic Test
Genetic test for UCHL1 and PARK5 gene variations associated with Parkinson's disease risk. Utilizes Next Generation Sequencing (NGS) technology.
DNAJC19 Gene 3-Methylglutaconic Aciduria Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the DNAJC19 gene for mutations associated with 3-Methylglutaconic Aciduria Type 5, a rare metabolic disorder. Confirm with the laboratory before booking.
HJV Gene Hemochromatosis Type 2A Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the HJV gene associated with Hemochromatosis type 2A, a condition causing excessive iron accumulation. Helps assess risk for early management.
MYH9 Gene Deafness Autosomal Dominant Type 17 Genetic Test
Genetic test to identify mutations in the MYH9 gene associated with autosomal dominant hearing loss. Helps understand genetic predisposition and inform family planning.
EDA Gene Ectodermal Dysplasia Hypohidrotic X-linked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EDA gene associated with Hypohidrotic Ectodermal Dysplasia. Helps diagnose conditions affecting skin, hair, teeth, and sweat glands.
KRT16 Gene Palmoplantar Keratoderma Nonepidermolytic Focal Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the KRT16 gene for mutations associated with Nonepidermolytic Focal Palmoplantar Keratoderma. Helps diagnose and guide management of this skin condition.
RYR2 Gene Ventricular Tachycardia Catecholaminergic Polymorphic Type 1 Genetic Test
Genetic test analyzing the RYR2 gene to identify mutations linked to Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a serious heart rhythm disorder. Helps in early diagnosis and management.
GNAS Gene Pseudohypoparathyroidism Type 1C Genetic Test
Genetic test analyzing the GNAS gene to help diagnose Pseudohypoparathyroidism Type 1C, a condition affecting hormone regulation. Utilizes Next-Generation Sequencing (NGS) technology.
LONP1 Gene CODAS Syndrome Genetic Test
Genetic test to identify mutations in the LONP1 gene associated with CODAS syndrome, aiding in early diagnosis and management.
RBBP8 Gene Seckel Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the RBBP8 gene for mutations associated with Seckel syndrome, a rare disorder affecting growth and development. Early diagnosis aids in management.
Beta Thalassemia HBB Full Gene Analysis Couple Prenatal TRIO Analysis
A genetic test for couples planning a family to assess the risk of passing on beta thalassemia, an inherited blood disorder. Helps in informed family planning.
Oncomine Lung CfTNA Cancer Panel
The Oncomine Lung CfTNA Cancer Panel uses advanced genetic sequencing to identify mutations in lung cancer, guiding personalized treatment decisions.
TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Genetic Test
Genetic test for TMEM43 gene mutations associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Type 5. Helps identify individuals at risk for this heart condition.
Pyruvate Pyruvic Acid Test
The Pyruvate Pyruvic Acid Test measures pyruvate levels in the blood to help diagnose metabolic disorders affecting energy production. Confirm with the laboratory before booking.
IQCE Gene Autism IQCE Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the IQCE gene associated with autism spectrum disorders. Helps understand genetic factors related to neurological conditions.
ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ETHE1 gene associated with ethylmalonic encephalopathy, a rare neurological disorder. Confirm with the laboratory before booking.
CUL4B Gene Mental Retardation X-linked Type 15 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CUL4B gene, associated with X-linked mental retardation. Helps diagnose genetic causes of neurological disorders.
PARK7 Gene PARK7 Parkinson Genetic Test
Genetic test to identify mutations in the PARK7 gene associated with Parkinson's disease risk. Recommended for individuals with a family history or symptoms.
UPD Chr 6 Gene 6q24-Related Transient Neonatal Diabetes Mellitus Type 1 Genetic Test
Genetic test to identify variations in chromosome 6q24 associated with transient neonatal diabetes mellitus type 1. Uses Next Generation Sequencing (NGS) technology.
HAMP Gene Hemochromatosis Type 2B Genetic Test
Genetic test to identify mutations in the HAMP gene associated with hereditary hemochromatosis, a condition causing excessive iron accumulation. Helps in early detection and management.
ACTG1 Gene Deafness Autosomal Dominant Type 20 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ACTG1 gene associated with autosomal dominant hearing loss. Helps understand the genetic basis of hearing impairment.
IKBKG Gene Ectodermal Dysplasia Hypohidrotic With Immune Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the IKBKG gene associated with Ectodermal Dysplasia, Hypohidrotic Immune Deficiency. Helps in early diagnosis and management.
Cdsn Gene Peeling Skin Syndrome Type 1 Genetic Test
Genetic test for Peeling Skin Syndrome Type 1, caused by mutations in the CDSN gene. Helps diagnose and manage this skin condition.
CASQ2 Gene Ventricular Tachycardia Catecholaminergic Polymorphic Type 2 Genetic Test
Genetic test to identify mutations in the CASQ2 gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a condition linked to serious heart rhythm problems.
BICC1 Gene Renal Cystic Dysplasia Cystic Susceptibility to Genetic Test
This genetic test analyzes the BICC1 gene to identify mutations associated with renal cystic dysplasia, helping assess hereditary risks for kidney disorders.
CRLF1 Gene Coldinduced Sweating Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CRLF1 gene associated with cold-induced sweating syndrome. Helps in diagnosing genetic conditions related to dysmorphology.
CENPJ Gene Seckel Syndrome Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CENPJ gene associated with Seckel Syndrome Type 4, a rare disorder affecting growth and facial features. Helps in early diagnosis and management.
Beta Thalassemia HBB Deletion/Duplication Analysis
This genetic test identifies deletions or duplications in the HBB gene, which can cause beta thalassemia, a condition affecting hemoglobin production and leading to anemia. Confirm with the laboratory before booking.
ENG Gene Telangiectasia Hereditary Hemorrhagic of Rendu Osler and Weber Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ENG gene associated with Hereditary Hemorrhagic Telangiectasia (HHT), a condition causing abnormal blood vessel formation. Helps identify genetic predisposition for proactive management.
GYG2 Gene Autism GYG2 Related Genetic Test
The GYG2 Gene Autism Genetic Test uses Next Generation Sequencing (NGS) to identify genetic variations in the GYG2 gene associated with autism spectrum disorders. This test can provide valuable insights for families seeking to understand genetic factors related to autism.
HOXB1 Gene Facial Paresis Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the HOXB1 gene for mutations associated with Facial Paresis Type 3. Aids in diagnosing the genetic cause of facial weakness or paralysis.
FGD1 Gene Mental Retardation X-Linked Type 16 Genetic Test
This genetic test identifies mutations in the FGD1 gene, which can be associated with X-linked mental retardation. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
PINK1 Gene PARK6 Parkinson Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PINK1 gene for mutations associated with Parkinson's disease. Helps assess genetic predisposition, especially for those with a family history.
Serac1 Gene 3-Methylglutaconic Aciduria with Deafness, Encephalopathy and Leigh-like Syndrome Genetic Test
This genetic test identifies mutations in the SERAC1 gene, which can cause 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome. It uses Next Generation Sequencing (NGS) technology to help diagnose metabolic disorders.
TFR2 Gene Hemochromatosis Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TFR2 gene associated with Hemochromatosis type 3, a disorder of iron overload. Recommended for individuals with a family history or symptoms.
Myo6 Gene Deafness Autosomal Dominant Type 22 Genetic Test
Genetic test to identify mutations in the MYO6 gene associated with autosomal dominant hearing loss. Helps understand hereditary hearing impairment.
PKP1 Gene Ectodermal Dysplasia/Skin Fragility Syndrome Genetic Test
Genetic test to identify mutations in the PKP1 gene associated with ectodermal dysplasia and skin fragility syndromes using Next-Generation Sequencing (NGS).
CTSC Gene Papillon-Lefevre Syndrome Genetic Test
Genetic test to identify mutations in the CTSC gene associated with Papillon-Lefevre syndrome, a condition affecting skin and dental health. Utilizes Next-Generation Sequencing (NGS) technology.
CALM1 Gene Ventricular Tachycardia Catecholaminergic Polymorphic Type 4 Genetic Test
Genetic test to identify mutations in the CALM1 gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a condition linked to serious heart rhythm problems.
SLC26A1 Gene Renal Dysfunction Due to SLC26A1 Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SLC26A1 gene associated with renal dysfunction. Helps diagnose kidney issues related to SLC26A1 deficiency.
SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related Genetic Test
Genetic test to identify mutations in the SMARCE1 gene associated with Coffin-Siris syndrome, a condition characterized by distinct physical features and developmental delays. Useful for families with a history of dysmorphology.
CEP63 Gene Seckel Syndrome Type 6 Genetic Test
This genetic test identifies mutations in the CEP63 gene, associated with Seckel syndrome, a rare disorder affecting growth and facial features. Recommended for individuals with dysmorphology symptoms.
Beta Thalassemia HBB Full Gene Analysis Couple
Genetic test for couples to assess the risk of passing on beta thalassemia to their children. Provides insights for family planning.
Oncomine Tumor Mutation Burden TMB
The Oncomine Tumor Mutation Burden (TMB) Test assesses the number of mutations in a tumor's DNA, providing insights for personalized cancer treatment decisions. Confirm with the laboratory before booking.
Peridontal Multiplex Detection Differentiation Porphyromonas Gingivalis Aggregatibacter Actinomycetemcomitans Fusobaterium Nucleatum Tannerella Forsythia RNA Detection Qualitative Test
Identify specific bacteria linked to gum disease with the Peridontal Multiplex Detection Test. This test helps in early detection and management of periodontal issues.
MTTI Gene Cardiomyopathy Fatal MTTI Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MTTI gene associated with fatal cardiomyopathy. Important for individuals with a family history of cardiovascular diseases.
NTNG1 Gene Autism NTNG1 Related Genetic Test
This genetic test analyzes the NTNG1 gene to identify variations associated with autism spectrum disorders (ASD). It uses Next-Generation Sequencing (NGS) technology to provide insights into potential genetic factors contributing to neurological conditions.
FAT1 Gene Facioscapulohumeral Dystrophylike Phenotype FAT1 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FAT1 gene, associated with facioscapulohumeral dystrophy (FSHD) and related neurological conditions.
HSD17B10 Gene Mental Retardation X-Linked Type 17 Genetic Test
Genetic test to identify mutations in the HSD17B10 gene, associated with X-linked mental retardation. Uses Next-Generation Sequencing (NGS) for accurate diagnosis.
Lrrk2 Gene Park8 Parkinson Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LRRK2 gene associated with Parkinson's disease. Helps understand genetic risk factors.
MTTP Gene Abetalipoproteinemia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the MTTP gene for mutations associated with abetalipoproteinemia, a rare disorder affecting lipid absorption. Confirm with the laboratory before booking.
SLC40A1 Gene Hemochromatosis Type 4 Genetic Test
This genetic test identifies mutations in the SLC40A1 gene associated with Hemochromatosis Type 4, a condition involving excessive iron accumulation. Understanding your genetic risk is key for early management.
SLC17A8 Gene Deafness Autosomal Dominant Type 25 Genetic Test
Genetic test to identify mutations in the SLC17A8 gene associated with autosomal dominant hearing loss. Uses Next-Generation Sequencing (NGS) technology.
COL5A1 Gene Ehlers-Danlos Syndrome Type 12 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the COL5A1 gene, aiding in the diagnosis of Ehlers-Danlos Syndrome Type 12, a connective tissue disorder.
CHST8 Gene Peeling Skin Syndrome Type 3 Genetic Test
This genetic test identifies mutations in the CHST8 gene associated with Peeling Skin Syndrome Type 3, a condition causing severe skin peeling. It helps in understanding the genetic basis for effective management.
TRDN Gene Ventricular Tachycardia Catecholaminergic Polymorphic Type 5 Genetic Test
Genetic test to identify variations in the TRDN gene associated with a predisposition to ventricular tachycardia, a serious heart condition. Helps understand cardiovascular risk.
SLC5A2 Gene Renal Glucosuria Genetic Test
The SLC5A2 Gene Renal Glucosuria Genetic Test assesses the SLC5A2 gene to identify genetic variations linked to renal glucosuria, a condition affecting glucose reabsorption in the kidneys. This test helps in understanding predisposition and managing potential health issues.
CLCF1 Gene Cold-Induced Sweating Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CLCF1 gene for mutations associated with Cold-Induced Sweating Syndrome Type 2.
CEP152 Gene Seckel Syndrome Type 5 Genetic Test
Genetic test to identify mutations in the CEP152 gene associated with Seckel syndrome, a condition characterized by growth retardation and microcephaly. Utilizes Next-Generation Sequencing (NGS) technology.
Oncomine Myeloid Panel
The Oncomine Myeloid Panel is a genetic test using Next-Generation Sequencing (NGS) to identify mutations associated with myeloid malignancies like MDS, MPN, AML, CML, CMML, and JMML. This test aids in diagnosis and treatment planning.
Pan Fungal RNA Detection Qualitative Test
Detects RNA from various fungal pathogens to diagnose fungal infections using Real Time RT-PCR. Essential for patients with symptoms of fungal infections.
DSP Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 8 Genetic Test
Genetic test for mutations in the DSP gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). Uses Next-Generation Sequencing (NGS) technology.
MBD1 Gene Autism MBD1 Related Genetic Test
Genetic test analyzing the MBD1 gene, associated with autism spectrum disorders. Provides insights into genetic factors for families seeking understanding.
CACNA1A Gene Familial Hemiplegic Migraine Type 1 Genetic Test
This genetic test identifies mutations in the CACNA1A gene associated with Familial Hemiplegic Migraine Type 1 (FHM1), a rare type of migraine with aura. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
RPS6KA3 Gene Mental Retardation X-Linked Type 19 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify alterations in the RPS6KA3 gene, associated with certain forms of mental retardation and developmental delays.
ATP13A2 Gene PARK9 Parkinson Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ATP13A2 gene for mutations associated with Parkinson's disease. Helps identify hereditary risk factors for neurological disorders.
Ache Gene Acetycholinesterase Deficiency Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to identify mutations in the ACHE gene associated with acetylcholinesterase deficiency, a condition linked to metabolic disorders. Understanding your genetic risk can inform personalized healthcare.
G6PD Gene Hemolytic Anemia Due to G6PD Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the G6PD gene associated with G6PD deficiency, a condition that can cause hemolytic anemia. Helps identify individuals at risk, especially those with a family history.
SIX1 Gene Deafness Autosomal Dominant Type 23 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SIX1 gene for mutations associated with autosomal dominant hearing loss. Suitable for individuals with a family history of deafness.
COL5A2 Gene Ehlers-Danlos Syndrome Type 12 Genetic Test
Genetic test analyzing the COL5A2 gene to help diagnose Ehlers-Danlos Syndrome Type 12, a connective tissue disorder. Uses Next-Generation Sequencing (NGS) technology.
TGM5 Gene Peeling Skin Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TGM5 gene associated with Peeling Skin Syndrome Type 2. Helps in diagnosis and management.
SERPING1 Gene Angioedema Hereditary Genetic Test
Genetic test to identify variations in the SERPING1 gene associated with hereditary angioedema. Helps understand genetic risk and inform management strategies.
ATP6V1B1 Gene Renal Tubular Acidosis with Deafness Genetic Test
Genetic test to identify mutations in the ATP6V1B1 gene associated with renal tubular acidosis and hearing loss. Helps diagnose and manage these conditions.
FOXH1 Gene Congenital Heart Disease and Transposition of the Great Arteries Genetic Test
Genetic test analyzing the FOXH1 gene to identify mutations associated with congenital heart defects, particularly transposition of the great arteries. Helps understand genetic risks and inform family planning.
NIN Gene Seckel Syndrome Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the NIN gene associated with Seckel syndrome type 7. Helps diagnose this rare condition characterized by growth deficiencies and distinct facial features.
Beta Thalassemia HBB Full Gene Analysis Single
The Beta Thalassemia HBB Full Gene Analysis Single test examines the HBB gene for mutations linked to beta thalassemia, a blood disorder affecting hemoglobin. This genetic test is important for individuals with a family history of thalassemia or related symptoms.
Mttg Gene Cardiomyopathy Hypertrophic Mttg Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MTTG gene associated with hypertrophic cardiomyopathy (HCM). Helps identify inherited heart conditions.
FISH 22q Deletion or LSI Di George VCFS Test
The FISH 22q Deletion or LSI DiGeorge VCFS Test identifies chromosomal abnormalities linked to DiGeorge syndrome and Velocardiofacial syndrome (VCFS), aiding in early diagnosis and management.
OR13H1 Gene Autism OR13H1 Related Genetic Test
The OR13H1 Gene Autism test uses Next-Generation Sequencing (NGS) to analyze the OR13H1 gene, identifying potential genetic links to autism spectrum disorders and related neurological conditions. This test can provide valuable insights for individuals with symptoms or a family history.
ATP1A2 Gene Familial Hemiplegic Migraine Type 2 Genetic Test
This genetic test identifies mutations in the ATP1A2 gene associated with Familial Hemiplegic Migraine Type 2, a rare neurological disorder. It uses Next Generation Sequencing (NGS) technology.
IL1RAPL1 Gene Mental Retardation X-Linked Type 21 Genetic Test
This genetic test identifies mutations in the IL1RAPL1 gene associated with X-linked mental retardation type 21. It uses advanced Next Generation Sequencing (NGS) technology to help diagnose developmental delays and intellectual disabilities, particularly in families with a history of neurological disorders.
GBA Gene Parkinson Disease Late-Onset Susceptibility to Genetic Test
Genetic test to assess susceptibility to late-onset Parkinson's disease by analyzing the GBA gene using Next Generation Sequencing (NGS).
CAT Gene Acatalasemia Genetic Test
This genetic test identifies mutations in the CAT gene associated with acatalasemia, a rare metabolic disorder. It uses Next Generation Sequencing (NGS) for comprehensive analysis.
GPI Gene Hemolytic Anemia Nonspherocytic Due to Glucose Phosphate Isomerase Deficiency Genetic Test
Genetic test for Glucose Phosphate Isomerase Deficiency, a cause of nonspherocytic hemolytic anemia. Uses Next Generation Sequencing (NGS) to analyze the GPI gene.
GRHL2 Gene Deafness Autosomal Dominant Type 28 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GRHL2 gene associated with autosomal dominant hearing loss. Helps understand genetic predispositions to hearing impairment.
COL3A1 Gene Ehlers-Danlos Syndrome Type 3 Genetic Test
Genetic test to identify mutations in the COL3A1 gene associated with Ehlers-Danlos Syndrome Type 3 (EDS Type 3). This test uses Next-Generation Sequencing (NGS) technology to analyze the COL3A1 gene, providing insights for individuals with symptoms of connective tissue disorders.
CSTA Gene Peeling Skin Syndrome Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CSTA gene associated with Peeling Skin Syndrome Type 4. Helps diagnose and manage skin conditions.
PRKAG2 Gene Wolff Parkinson-White Syndrome Genetic Test
This genetic test identifies mutations in the PRKAG2 gene associated with Wolff-Parkinson-White syndrome, a condition that can lead to cardiovascular issues. Early detection helps in managing potential health risks.
ATP6V0A4 Gene Renal Tubular Acidosis Distal Autosomal Recessive Genetic Test
Genetic test to identify mutations in the ATP6V0A4 gene associated with distal renal tubular acidosis (RTA). Uses Next Generation Sequencing (NGS) for accurate diagnosis.
CLMP Gene Congenital Shortbowel Syndrome Genetic Test
Genetic test to identify mutations in the CLMP gene associated with congenital short bowel syndrome, aiding in diagnosis and management.
COL2A1 Gene SED Congenita Genetic Test
Genetic test to identify mutations in the COL2A1 gene associated with skeletal dysplasias, aiding in the diagnosis and management of congenital bone and cartilage conditions.
Pancreatitic Mutation Panel
The Pancreatic Mutation Panel is a genetic test to identify mutations linked to pancreatic diseases. It helps assess risk for individuals with a family history or symptoms.
Pan Malassezia Quantitative Test
Detects and quantifies Malassezia fungi in tissue or blood samples to aid in diagnosing skin lesions and systemic symptoms.
MMP3 Gene Coronary Heart Disease Susceptibility to Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MMP3 gene for susceptibility to coronary heart disease. Helps identify genetic risk factors for cardiovascular conditions.
Respiratory Comprehensive Panel Test
The Respiratory Comprehensive Panel Test identifies 33 common respiratory pathogens using Real Time PCR technology. Ideal for diagnosing respiratory infections.
OXTR Gene Autism OXTR Related Genetic Test
The OXTR Gene Autism test uses Next-Generation Sequencing (NGS) to analyze the OXTR gene for variations associated with autism spectrum disorders (ASD). This genetic test provides insights into potential genetic predispositions related to autism.
SCN1A Gene Familial Hemiplegic Migraine Type 3 Genetic Test
This genetic test identifies mutations in the SCN1A gene associated with Familial Hemiplegic Migraine Type 3, aiding in diagnosis and understanding genetic risks for neurological disorders.
ARX Gene Mental Retardation X-Linked Type 29 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ARX gene, associated with X-linked mental retardation and neurological disorders.
MTTT Gene Parkinson Disease Susceptibility to MTTT Related Genetic Test
Assess your genetic risk for Parkinson's disease related to the MTTT gene. This test uses advanced NGS technology to identify potential susceptibility, particularly relevant for those with a family history of neurological disorders.
ACACA Gene AcetylCoA Carboxylase Deficiency Genetic Test
This genetic test identifies mutations in the ACACA gene associated with Acetyl-CoA carboxylase deficiency, a metabolic disorder. It uses Next-Generation Sequencing (NGS) technology.
F8 Gene Hemophilia A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the F8 gene associated with Hemophilia A, a bleeding disorder. Recommended for individuals with a family history or unexplained bleeding.
GJB3 Gene Deafness Autosomal Dominant Type 2B Genetic Test
Genetic test to identify mutations in the GJB3 gene associated with autosomal dominant hearing loss, using Next-Generation Sequencing (NGS).
TNXB Gene Ehlers-Danlos Syndrome Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TNXB gene for mutations associated with Ehlers-Danlos syndrome (EDS) type 3, a connective tissue disorder.
CARD14 Gene Pityriasis Rubra Pilaris Genetic Test
Genetic test to identify mutations in the CARD14 gene associated with Pityriasis Rubra Pilaris (PRP), a skin condition. Helps in diagnosis and understanding predisposition.
TGFBR2 Gene Aortic Aneurysm Familial Thoracic Type 3 Genetic Test
This genetic test identifies mutations in the TGFBR2 gene associated with Familial Thoracic Aortic Aneurysm Type 3. It helps assess risk for individuals with a family history of this condition, enabling proactive health management.
SLC4A4 Gene Renal Tubular Acidosis Proximal with Ocular Abnormalities Genetic Test
Genetic test to identify mutations in the SLC4A4 gene associated with proximal renal tubular acidosis and ocular abnormalities. Helps guide diagnosis and management.
LAMC3 Gene Cortical Malformations Occipital Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to detect mutations in the LAMC3 gene, associated with certain cortical malformations. It helps identify the genetic basis for neurological conditions and dysmorphology.
EXT2 Gene Seizures Scoliosis and Macrocephaly Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the EXT2 gene for mutations associated with seizures, scoliosis, and macrocephaly. Helps identify genetic predispositions and guide management.
Parvovirus B19 Qualitative PCR
Detects the presence of Parvovirus B19 in the bloodstream using a sensitive PCR test. Important for individuals with symptoms or specific risk factors.
Rarapml Quantitative Test
The Rarapml Quantitative Test measures the amount of viral RNA in a sample to help monitor viral infections and treatment effectiveness. Available across Kenya with home collection options.
PLN Gene Cardiomyopathy Hypertrophic Type 18 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PLN gene associated with hypertrophic cardiomyopathy (HCM). Helps assess risk for individuals with a family history or symptoms.
Connexin 26 Mutation Detection Test
Identifies genetic mutations in the GJB2 gene, a common cause of hereditary hearing loss. This test helps diagnose unexplained auditory issues.
Respiratory Panel 2 Test
The Respiratory Panel 2 Test identifies respiratory infections caused by Parainfluenza viruses 2, 3, and 4 using Real Time PCR technology. Helps diagnose respiratory symptoms.
PKHD1L1 Gene Autism PKHD1L1 Related Genetic Test
Genetic test to identify variations in the PKHD1L1 gene associated with autism spectrum disorders (ASD). Helps understand genetic predispositions for early diagnosis and informed health decisions.
TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test
Genetic test to identify mutations in the TBC1D24 gene associated with familial infantile myoclonic epilepsy, aiding in diagnosis and management.
PAK3 Gene Mental Retardation X-Linked Type 30 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PAK3 gene associated with X-linked intellectual disability and neurological disorders.
ATP6AP2 Gene Parkinsonism With Spasticity Xlinked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ATP6AP2 gene associated with X-linked Parkinsonism with spasticity. Aids in diagnosis and understanding of neurological symptoms.
ALDH2 Gene Acute Alcohol Sensitivity Genetic Test
This genetic test identifies variations in the ALDH2 gene that may cause heightened sensitivity to alcohol, leading to adverse reactions like flushing and nausea.
CETP Gene High Density Lipoprotein Cholesterol Level QTL 10 Genetic Test
Genetic test assessing variations in the CETP gene, linked to HDL cholesterol levels and metabolic disorders. Helps understand genetic predisposition to cholesterol-related issues.
KCNQ4 Gene Deafness Autosomal Dominant Type 2A Genetic Test
Genetic test to identify mutations in the KCNQ4 gene associated with autosomal dominant hearing loss. Utilizes Next Generation Sequencing (NGS) technology.
COL3A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test
Genetic test for Ehlers-Danlos syndrome type 4 (EDS type 4), a connective tissue disorder caused by mutations in the COL3A1 gene. Helps identify genetic changes linked to the condition.
SNAI2 Gene Piebaldism Genetic Test
Genetic test to identify mutations in the SNAI2 gene associated with piebaldism, a condition causing patches of unpigmented skin and hair. Uses Next-Generation Sequencing (NGS) technology.
Serpinc1 Gene Antithrombin III Deficiency Genetic Test
Genetic test for mutations in the SERPINC1 gene, associated with Antithrombin III deficiency and increased risk of blood clots. Uses Next Generation Sequencing (NGS).
SLC4A5 Gene Renal Tubular Acidosis SLC4A5 Related Genetic Test
Genetic test to identify mutations in the SLC4A5 gene associated with renal tubular acidosis. Helps diagnose the cause of kidney dysfunction and guide treatment.
ARX Gene Corpus Callosum Agenesis with Abnormal Genitalia Genetic Test
Genetic test to identify mutations in the ARX gene, associated with corpus callosum agenesis and abnormal genitalia. Helps diagnose developmental disorders and guide management.
SHOX Gene Short Stature Syndrome Genetic Test
Genetic test to identify mutations in the SHOX gene, a common cause of short stature and skeletal abnormalities. Helps understand growth issues.
PDGFR cKIT Gastrointestinal Stromal Tumors
This genetic test identifies mutations in the PDGFR and cKIT genes, which are associated with gastrointestinal stromal tumors (GISTs). It helps guide treatment decisions.
Pneumosystis Carinii RNA Detection Qualitative Test
Detects Pneumocystis jirovecii RNA to diagnose Pneumocystis pneumonia, particularly in individuals with weakened immune systems. Utilizes Real Time RT-PCR technology.
DSP Gene Dilated Cardiomyopathy with Woolly Hair Keratoderma and Tooth Agenesis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DSP gene associated with dilated cardiomyopathy, woolly hair keratoderma, and tooth agenesis. Helps assess risk and guide management.
Comt Genotyping Test
The COMT Genotyping Test analyzes variations in the COMT gene, influencing neurotransmitter metabolism. This test can help tailor mental health treatment strategies based on individual genetic profiles.
Respiratory Panel 1 Test
The Respiratory Panel 1 Test helps diagnose common respiratory viral infections like Influenza A & B and Rhino Virus. Early detection aids in timely treatment.
Rnf128 Gene Autism Rnf128 Related Genetic Test
The RNF128 Gene Autism Genetic Test analyzes the RNF128 gene using Next-Generation Sequencing (NGS) to identify potential genetic factors associated with autism spectrum disorders. This test can provide valuable insights for families seeking to understand genetic contributions to autism.
PRNP Gene Fatal Familial Insomnia Genetic Test
Genetic test for mutations in the PRNP gene associated with Fatal Familial Insomnia (FFI), a rare inherited neurological disorder. Uses Next Generation Sequencing (NGS) technology.
HCFC1 Gene Mental Retardation X-Linked Type 3 Genetic Test
This genetic test identifies mutations in the HCFC1 gene, which are associated with X-linked mental retardation. It uses Next-Generation Sequencing (NGS) technology to analyze DNA, aiding in the diagnosis and management of neurological disorders.
SLC6A3 Gene Parkinsonism-Dystonia Infantile Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLC6A3 gene associated with Parkinsonism-Dystonia Infantile. Helps in diagnosis and management.
ALAD Gene Acute Hepatic Porphyria Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ALAD gene associated with Acute Hepatic Porphyria (AHP). This test helps diagnose this metabolic disorder, which affects heme production.
HLCS Gene Holocarboxylase Synthetase Deficiency Genetic Test
The HLCS Gene Holocarboxylase Synthetase Deficiency NGS Genetic DNA Test identifies mutations in the HLCS gene, aiding in the diagnosis of related metabolic disorders. This test is important for individuals with symptoms or a family history of these conditions.
TMC1 Gene Deafness Autosomal Dominant Type 36 Genetic Test
Genetic test to identify mutations in the TMC1 gene associated with autosomal dominant hearing loss. Helps understand genetic predispositions to hearing impairment.
COL5A1 Gene Ehlers-Danlos Syndrome Type 4 Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to identify mutations in the COL5A1 gene, which are associated with Ehlers-Danlos syndrome type 4. It helps diagnose the condition, understand risks, and guide management.
USB1 Gene Poikiloderma with Neutropenia Genetic Test
This genetic test identifies mutations in the USB1 gene, associated with poikiloderma and neutropenia, using Next-Generation Sequencing (NGS) technology. It helps diagnose conditions involving skin abnormalities and low white blood cell counts.
MYH11 Gene Aortic Aneurysm Familial Thoracic Type 4 Genetic Test
Genetic test to identify mutations in the MYH11 gene associated with Familial Thoracic Aortic Aneurysm Type 4. Recommended for individuals with a family history of aortic aneurysms or related vascular conditions.
ACE Gene Renal Tubular Dysgenesis Genetic Test
The ACE Gene Renal Tubular Dysgenesis NGS Genetic DNA Test identifies genetic mutations linked to renal tubular dysgenesis, a condition affecting kidney function. This test uses advanced Next Generation Sequencing (NGS) technology.
HRAS Gene Costello Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HRAS gene associated with Costello syndrome. Aids in diagnosis and management.
HESX1 Gene Septooptic Dysplasia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the HESX1 gene, associated with septooptic dysplasia. Helps diagnose vision and pituitary gland issues.
Biopsy Electron Microscopy
Biopsy Electron Microscopy provides a detailed microscopic examination of tissue samples to help identify genetic disorders and other abnormalities. This test offers high-resolution insights into cellular structures, aiding in precise diagnoses and treatment planning.
PDGFR Mutation Screening Exons 12 14 18
This genetic test identifies specific mutations in the PDGFR gene (Exons 12, 14, 18), which can be important for understanding and managing certain types of cancer, particularly gastrointestinal stromal tumors (GISTs).
Rubella RNA Detection Qualitative Test
Detects the presence of the rubella virus using Real-Time PCR technology. Important for pregnant women and individuals with rubella symptoms.
ZFPM2 Gene Diaphragmatic Hernia Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ZFPM2 gene for mutations associated with diaphragmatic hernia type 3 and related cardiovascular pneumology disorders.
Connexin 30 Mutation Detection Test
The Connexin 30 Mutation Detection Test identifies mutations in the GJB6 gene, which can be linked to certain neurologic disorders, particularly hearing loss. This test uses PCR sequencing to analyze genetic material.
Respiratory Panel 3 Test
The Respiratory Panel 3 Test detects four common coronaviruses (NL63, 229E, OC43, HKU1) that cause respiratory infections. This test helps identify the specific virus causing symptoms, guiding appropriate treatment.
RRM1 Gene Autism RRM1 Related Genetic Test
The RRM1 Gene Autism test uses Next-Generation Sequencing (NGS) to analyze the RRM1 gene, identifying genetic variations potentially linked to autism spectrum disorders (ASD). This test can provide insights for families seeking to understand genetic factors related to ASD.
ADGRV1 Gene Febrile Seizures Familial Type 4 Genetic Test
Genetic test to identify mutations in the ADGRV1 gene associated with familial febrile seizures. Helps assess risk and inform management.
GDI1 Gene Mental Retardation X-Linked Type 41 Genetic Test
This genetic test analyzes the GDI1 gene to help identify the cause of certain types of intellectual disability and neurological disorders. It uses Next Generation Sequencing (NGS) technology.
SLC2A1 Gene Paroxysmal Exercise-Induced Dyskinesia with Epilepsy and/or Hemolytic Anemia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the SLC2A1 gene for mutations linked to paroxysmal exercise-induced dyskinesia, epilepsy, and/or hemolytic anemia. Helps in diagnosis and treatment planning.
ACADM Gene Acyl-CoA Medium-Chain Dehydrogenase Deficiency Genetic Test
Genetic test to identify mutations in the ACADM gene, associated with medium-chain acyl-CoA dehydrogenase deficiency, a metabolic disorder affecting fat breakdown. Uses Next Generation Sequencing (NGS).
IDUA Gene Hurler Syndrome Genetic Test
The IDUA Gene Hurler Syndrome NGS Genetic DNA Test identifies mutations in the IDUA gene linked to Hurler syndrome, a metabolic disorder. This test uses Next-Generation Sequencing (NGS) for accurate genetic analysis.
DSPP Gene Deafness Autosomal Dominant Type 39 with Dentinogenesis Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DSPP gene associated with hearing loss and dental abnormalities (Dentinogenesis Imperfecta).
PLOD1 Gene Ehlers-Danlos Syndrome Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PLOD1 gene for mutations associated with Ehlers-Danlos syndrome type 6. Helps identify genetic predispositions to this connective tissue disorder.
MVK Gene Porokeratosis Type 3 Disseminated Superficial Actinic Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MVK gene associated with Porokeratosis Type 3. Helps understand genetic predisposition to this skin disorder.
TGFBR1 Gene Aortic Aneurysm Familial Thoracic Type 5 Genetic Test
Genetic test to identify mutations in the TGFBR1 gene associated with an increased risk of aortic aneurysms, particularly relevant for individuals with a family history of vascular diseases.
AGTR1 Gene Renal Tubular Dysgenesis Genetic Test
The AGTR1 Gene Renal Tubular Dysgenesis test identifies genetic variations in the AGTR1 gene linked to renal tubular dysgenesis, a condition affecting kidney function. This test uses Next-Generation Sequencing (NGS) technology.
TBX15 Gene Cousin Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TBX15 gene, relevant for individuals with dysmorphology or a family history of related genetic disorders. Confirm with the laboratory before booking.
XRCC4 Gene Short Stature Microcephaly and Endocrine Dysfunction Genetic Test
Genetic test for mutations in the XRCC4 gene associated with short stature, microcephaly, and endocrine dysfunction. Helps diagnose underlying genetic causes.
MYH6 Gene Sick Sinus Syndrome Type 3 Genetic Test
Genetic test to identify mutations in the MYH6 gene associated with Sick Sinus Syndrome Type 3, a cardiovascular condition. Helps assess genetic risk.
Respiratory Panel 4 Test
The Respiratory Panel 4 Test identifies common viral pathogens causing respiratory infections, including Parainfluenza Virus, Human Metapneumovirus, Bocavirus, and Mycoplasma pneumoniae. This molecular test aids in timely diagnosis and targeted treatment.
SETD2 Gene Autism SETD2 Related Genetic Test
The SETD2 Gene Autism Genetic Test identifies genetic variations in the SETD2 gene associated with autism spectrum disorder. This test uses Next-Generation Sequencing (NGS) to analyze DNA and can provide insights for families affected by neurological conditions. Confirm with the laboratory before booking.
Med12 Gene Fg Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MED12 gene for mutations associated with FG Syndrome Type 1, aiding in the diagnosis and understanding of neurological conditions.
CLIC2 Gene Mental Retardation X-Linked Type 32 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CLIC2 gene, associated with X-linked mental retardation type 32 and other neurological disorders. Aids in diagnosis and management.
PNKD Gene Paroxysmal Nonkinesigenic Dyskinesia Genetic Test
Genetic test to identify mutations in the PNKD gene associated with paroxysmal nonkinesigenic dyskinesia (PNKD), a neurological disorder causing involuntary movements.
ETFA Gene AcylCoA Multiple Dehydrogenase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ETFA gene, associated with Acyl-CoA multiple dehydrogenase deficiency. Helps diagnose metabolic disorders and inform family planning.
IDUA Gene Hurler-Scheie Syndrome Genetic Test
Genetic test to identify mutations in the IDUA gene associated with Hurler-Scheie syndrome, a metabolic disorder. Aids in diagnosis and treatment planning.
GJB2 Gene Deafness Autosomal Dominant Type 3A Genetic Test
This genetic test identifies mutations in the GJB2 gene, a common cause of inherited hearing loss. It is recommended for individuals with a family history of deafness or unexplained hearing impairment.
COL1A1 Gene Ehlers-Danlos Syndrome Type 7A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the COL1A1 gene associated with Ehlers-Danlos Syndrome (EDS) type 7A. Helps in diagnosing and managing this inherited connective tissue disorder.
UROD Gene Porphyria Cutanea Tarda Genetic Test
Genetic test to identify mutations in the UROD gene associated with Porphyria cutanea tarda (PCT), a skin disorder causing fragility and blistering, especially with sun exposure. Helps guide diagnosis and treatment.
ACTA2 Gene Aortic Aneurysm Familial Thoracic Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ACTA2 gene associated with Familial Thoracic Aortic Aneurysm Type 6. Helps assess predisposition to vascular diseases.
AGT Gene Renal Tubular Dysgenesis Genetic Test
Genetic test analyzing the AGT gene to identify mutations associated with renal tubular dysgenesis, a condition affecting kidney development and function. Utilizes Next Generation Sequencing (NGS) technology.
SOST Gene Craniodiaphyseal Dysplasia Autosomal Dominant Genetic Test
Genetic test to identify mutations in the SOST gene associated with craniodiaphyseal dysplasia, a rare bone growth disorder. Helps in early diagnosis and management.
NBAS Gene Short Stature Optic Nerve Atrophy and Pelger-Huet Anomaly Genetic Test
Genetic test to identify mutations in the NBAS gene associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. Provides insights for diagnosis and management.
RSV A, RSV B, Metapneumonia A, B Multiplex Detection & Differentiation RNA Detection Qualitative Test
Detects RSV A, RSV B, and Metapneumovirus A & B RNA in respiratory samples using Real Time PCR. Helps identify specific viral causes of respiratory illness.
PROS1 Gene Protein S Deficiency Autosomal Dominant Genetic Test
The PROS1 Gene Protein S Deficiency Autosomal Dominant NGS Genetic DNA Test identifies mutations in the PROS1 gene, associated with an increased risk of vascular diseases and blood clots. This test uses Next-Generation Sequencing (NGS) technology.
FISH Aneuploidy Detection Products of Conception POC Using Chromosomes 13 18 21 X Y Test
This genetic test uses FISH technology to check for common chromosomal abnormalities (aneuploidies) in pregnancy-related tissues, such as the placenta. It helps identify potential genetic conditions early.
Mitochondrial Mutation Detection Comprehensive Panel Test
This genetic test identifies mutations in mitochondrial DNA, which can cause various neurological and genetic disorders. It uses advanced PCR and sequencing methods for accurate results.
Respiratory Panel 5 Test
The Respiratory Panel 5 Test identifies common viruses causing respiratory infections like cough, fever, and breathing difficulties using Real Time PCR technology. Available across Kenya.
SLC22A9 Gene Autism SLC22A9 Related Genetic Test
The SLC22A9 Gene Autism Genetic Test analyzes the SLC22A9 gene using Next-Generation Sequencing (NGS) to identify potential genetic variations associated with autism spectrum disorders. This test can provide valuable information for families concerned about autism risk, particularly those with a family history of neurological conditions.
FLNA Gene FG Syndrome Type 2 Genetic Test
This genetic test identifies mutations in the FLNA gene associated with FG Syndrome Type 2, a neurological disorder. Utilizes Next Generation Sequencing (NGS) technology for accurate diagnosis.
FTSJ1 Gene Mental Retardation X-Linked Type 44 Genetic Test
This genetic test identifies mutations in the FTSJ1 gene, which can be associated with X-linked mental retardation and neurological disorders. It uses advanced DNA sequencing technology.
PLP1 Gene Pelizaeus-Merzbacher Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PLP1 gene, associated with Pelizaeus-Merzbacher disease, a rare neurological disorder. Helps in diagnosis and management.
ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency Genetic Test
The ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test uses advanced sequencing technology to identify genetic mutations in the ETFB gene associated with metabolic disorders. This test is recommended for individuals with symptoms or a family history of such conditions.
LARS2 Gene Hydrops Lactic Acidosis and Sideroblastic Anemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LARS2 gene associated with hydrops, lactic acidosis, and sideroblastic anemia. Confirm with the laboratory before booking.
GJB6 Gene Deafness Autosomal Dominant Type 3B Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the GJB6 gene for mutations associated with autosomal dominant hearing loss. Helps identify genetic factors contributing to hearing loss.
COL1A2 Gene Ehlers-Danlos Syndrome Type 7B Genetic Test
Genetic test for Ehlers-Danlos Syndrome Type 7B, analyzing the COL1A2 gene using Next Generation Sequencing (NGS). Helps diagnose connective tissue disorders.
FECH Gene Protoporphyria Erythropoietic Type 1 Genetic Test
Genetic test analyzing the FECH gene to identify mutations associated with Erythropoietic Protoporphyria (EPP), a condition causing severe sun sensitivity and potential liver issues. Confirm with the laboratory before booking.
MYLK Gene Aortic Aneurysm Familial Thoracic Type 7 Genetic Test
Genetic test to identify mutations in the MYLK gene associated with familial thoracic aortic aneurysms. Helps assess risk for individuals with a family history of vascular diseases.
REN Gene Renal Tubular Dysgenesis Genetic Test
Genetic test to identify mutations in the REN gene associated with renal tubular dysgenesis, a condition affecting kidney function. Helps diagnose hereditary kidney disorders.
WDR35 Gene Cranioectodermal Dysplasia Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the WDR35 gene associated with Cranioectodermal Dysplasia Type 2. Helps in diagnosing the condition and informing family planning.
Pik3R1 Gene Short Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PIK3R1 gene, associated with developmental and growth disorders. Helps in early diagnosis and management.
Rabies Detection RNA Qualitative PCR Test
Detects the rabies virus in saliva using RNA Qualitative PCR. Essential for individuals potentially exposed to rabies, enabling early diagnosis and intervention.
SMAD2 Gene Thoracic Aortic Aneurysm Dissection Genetic Test
Genetic test to identify mutations in the SMAD2 gene associated with an increased risk of thoracic aortic aneurysm dissection. Helps in proactive health management.
Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes MELAS Mutation Detection Test
The MELAS Mutation Detection Test identifies genetic mutations linked to Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes (MELAS) syndrome, aiding in diagnosis and management.
Respiratory Panel 6 Test
The Respiratory Panel 6 Test identifies common bacterial pathogens causing respiratory infections like Staphylococcus aureus and Streptococcus pneumoniae. This test aids in diagnosing respiratory illnesses and guiding appropriate treatment.
UNC13B Gene Autism UNC13B Related Genetic Test
The UNC13B Gene Autism Genetic Test analyzes the UNC13B gene using Next Generation Sequencing (NGS) to identify genetic variations potentially linked to autism spectrum disorders (ASD). This test can help families understand genetic risks and inform health decisions.
CASK Gene FG Syndrome Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CASK gene associated with FG Syndrome Type 4, a neurological disorder. Aids in diagnosis and management.
ARHGEF6 Gene Mental Retardation X-Linked Type 46 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ARHGEF6 gene, associated with X-linked mental retardation. Helps diagnose neurological disorders.
ARX Gene Partington Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ARX gene associated with Partington syndrome, a neurological disorder. Aids in diagnosis and management.
ACADS Gene Acyl-CoA Short-Chain Dehydrogenase Deficiency Genetic Test
Genetic test to identify mutations in the ACADS gene, associated with Acyl-CoA short-chain dehydrogenase deficiency, a metabolic disorder affecting fatty acid metabolism. Genetic counseling is recommended.
CETP Gene Hyperalphalipoproteinemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the CETP gene associated with hyperalphalipoproteinemia, a metabolic disorder linked to cardiovascular health.
MYH14 Gene Deafness Autosomal Dominant Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MYH14 gene associated with autosomal dominant hearing loss.
ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C Genetic Test
Genetic test to identify mutations in the ADAMTS2 gene associated with Ehlers-Danlos Syndrome type 7C, a connective tissue disorder. Helps in diagnosis and management.
GGCX Gene Pseudoxanthoma Elasticumlike Disorder with Multiple Coagulation Factor Deficiency Genetic Test
Genetic test for mutations in the GGCX gene associated with pseudoxanthoma elasticum-like disorders and multiple coagulation factor deficiencies. Helps identify genetic risks for early intervention.
PRKG1 Gene Aortic Aneurysm Familial Thoracic Type 8 Genetic Test
This genetic test identifies mutations in the PRKG1 gene associated with Familial Thoracic Aortic Aneurysm Type 8. It helps individuals with a family history understand their risk and manage their vascular health.
CEP290 Gene Senior-Loken Syndrome Type 6 Genetic Test
Genetic test analyzing the CEP290 gene to identify mutations associated with Senior-Loken syndrome and related conditions affecting the kidneys and eyes.
IFT122 Gene Cranioectodermal Dysplasia Type 1 Genetic Test
Genetic test to detect mutations in the IFT122 gene, associated with Cranioectodermal Dysplasia Type 1, a condition affecting skull and facial development. Utilizes Next Generation Sequencing (NGS) technology.
WDR34 Gene Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the WDR34 gene for Short-Rib Thoracic Dysplasia Type 11, a condition affecting skeletal development.
ADA2 Gene Sneddon Syndrome Genetic Test
Genetic test to identify mutations in the ADA2 gene associated with Sneddon syndrome, a rare vascular disorder. Helps assess risk and inform management.
Respiratory Panel 7 Test
The Respiratory Panel 7 Test identifies common pathogens causing respiratory infections using Real Time PCR. Recommended for individuals with respiratory symptoms.
Vitamin D Ultrasensitive Test
Assess your vitamin D levels with our Ultrasensitive Vitamin D Test. Crucial for bone health, immune function, and overall well-being. Helps identify deficiencies early.
ATP10A Gene Autism, Mental Retardation, Angelman Syndrome Susceptibility to ATP10A Related Genetic Test
Genetic test analyzing the ATP10A gene to identify potential risks associated with autism spectrum disorders, mental retardation, and Angelman syndrome. Utilizes Next-Generation Sequencing (NGS) technology.
FLNC Gene Filaminopathy Genetic Test
The FLNC Gene Filaminopathy NGS Genetic DNA Test identifies mutations in the FLNC gene associated with neurological and muscular disorders. This test uses Next-Generation Sequencing (NGS) technology to provide comprehensive genetic insights.
ZNF81 Gene Mental Retardation X-Linked Type 45 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ZNF81 gene, associated with X-linked intellectual disability. Helps diagnose genetic causes of cognitive impairment.
SLC16A2 Gene Pelizaeus-Merzbacher Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SLC16A2 gene associated with Pelizaeus-Merzbacher disease, a rare neurological disorder.
ACADVL Gene Acyl-CoA Very Long-Chain Dehydrogenase Deficiency Genetic Test
This genetic test identifies mutations in the ACADVL gene, helping diagnose Acyl-CoA very long-chain dehydrogenase deficiency, a metabolic disorder. Early detection aids in management and treatment.
CA5A Gene Hyperammonemia Due to Carbonic Anhydrase VA Deficiency Genetic Test
Genetic test to identify mutations in the CA5A gene associated with hyperammonemia, a condition involving high ammonia levels. Uses Next Generation Sequencing (NGS) technology.
CRYM Gene Deafness Autosomal Dominant Type 40 Genetic Test
This genetic test identifies mutations in the CRYM gene associated with autosomal dominant hearing loss. It uses Next Generation Sequencing (NGS) technology to help diagnose genetic causes of deafness.
FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FKBP14 gene, associated with Ehlers-Danlos syndrome, progressive kyphoscoliosis, myopathy, and hearing loss. Helps in early diagnosis and management.
ABCC6 Gene Pseudoxanthoma Elasticum Forme Fruste Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ABCC6 gene associated with pseudoxanthoma elasticum (PXE) forme fruste. Aids in diagnosis and management.
Notch1 Gene Aortic Valve Disease Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NOTCH1 gene associated with aortic valve disease. Helps assess risk for individuals with a family history.
SDCCAG8 Gene Senior-Loken Syndrome Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SDCCAG8 gene associated with Senior-Loken syndrome, a condition affecting kidneys and eyes.
IFT43 Gene Cranioectodermal Dysplasia Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the IFT43 gene associated with Cranioectodermal Dysplasia Type 3. Helps in diagnosing this rare genetic condition.
IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly Genetic Test
Genetic test to identify mutations in the IFT172 gene associated with Short-Rib Thoracic Dysplasia Type 10, potentially with polydactyly. Helps diagnose skeletal dysmorphology.
Ped ALL Panel Karyotyping MLPA Deletion Duplication FISH Panel
A comprehensive genetic test using Karyotyping, MLPA, and FISH to identify chromosomal abnormalities and gene deletions/duplications, particularly relevant for pediatric patients.
Rsv A Rsv B Rna Detection Qualitative Test
Detects Respiratory Syncytial Virus (RSV) A and B RNA in respiratory samples using Real Time PCR. Essential for diagnosing RSV infections, especially in vulnerable populations.
BMPR2 Gene Pulmonary Venoocclusive Disease Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the BMPR2 gene associated with Pulmonary Venoocclusive Disease (PVOD).
Respiratory Panel 8 Test
The Respiratory Panel 8 Test identifies common pathogens causing respiratory infections using Real Time PCR technology. Suitable for individuals with respiratory symptoms.
ZNF778 Gene Autism ZNF778 Related Genetic Test
The ZNF778 Gene Autism test identifies genetic variations in the ZNF778 gene associated with autism spectrum disorders using Next Generation Sequencing (NGS). This test can provide valuable insights for families, particularly those with a history of neurological conditions.
FMR1 Gene Fragile X Tremorataxia Syndrome Genetic Test
Genetic test to identify mutations in the FMR1 gene associated with Fragile X-associated tremor/ataxia syndrome (FXTAS).
AP1S2 Gene Mental Retardation X-Linked Type 59 Genetic Test
The AP1S2 Gene Mental Retardation X-Linked Type 59 Genetic Test identifies mutations in the AP1S2 gene associated with neurological disorders and developmental delays. This test uses Next-Generation Sequencing (NGS) technology.
Sox10 Gene Peripheral Demyelinating Neuropathy Waardenburg Syndrome and Hirschsprung Disease Genetic Test
This genetic test identifies mutations in the Sox10 gene, associated with peripheral demyelinating neuropathy, Waardenburg syndrome, and Hirschsprung disease. It aids in diagnosis and management planning.
APRT Gene Adenine Phosphoribosyltransferase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the APRT gene, aiding in the diagnosis of adenine phosphoribosyltransferase deficiency, a metabolic disorder.
CYP24A1 Gene Hypercalcemia Infantile Type Genetic Test
Genetic test to identify mutations in the CYP24A1 gene, a cause of infantile hypercalcemia. Uses Next Generation Sequencing (NGS) technology.
CCDC50 Gene Deafness Autosomal Dominant Type 44 Genetic Test
Genetic test to identify mutations in the CCDC50 gene associated with autosomal dominant hearing loss. Utilizes Next-Generation Sequencing (NGS) technology.
CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test
This genetic test identifies mutations in the CHST14 gene, associated with Ehlers-Danlos Syndrome, musculocontractural type 1. It uses Next Generation Sequencing (NGS) for accurate analysis.
IL12B Gene Psoriasis Susceptibility Type 11 Genetic Test
This genetic test assesses variations in the IL12B gene to evaluate an individual's predisposition to psoriasis, a chronic autoimmune skin condition. It uses Next Generation Sequencing (NGS) technology.
MAT2A Gene Aortic Aneurysm Familial Thoracic MAT2A Related Genetic Test
Genetic test to identify variations in the MAT2A gene associated with a higher risk of developing aortic aneurysms, particularly familial thoracic aortic aneurysms. Helps inform proactive health management.
WNT4 Gene SERKAL Syndrome Genetic Test
The WNT4 Gene SERKAL Syndrome NGS Genetic DNA Test identifies genetic variations linked to SERKAL syndrome, a condition affecting the kidneys, liver, and endocrine system. This test uses advanced Next Generation Sequencing (NGS) technology.
WDR19 Gene Cranioectodermal Dysplasia Type 4 Genetic Test
Genetic test to identify mutations in the WDR19 gene associated with cranioectodermal dysplasia, a rare disorder affecting skull, face, and ectodermal structures. Confirm with the laboratory before booking.
IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 With or Without Polydactyly Genetic Test
Genetic test to identify mutations in the IFT80 gene associated with Short-Rib Thoracic Dysplasia Type 2, with or without polydactyly.
Peripheral Blood for High Resolution Couple Karyotyping
High Resolution Couple Karyotyping analyzes chromosomes in blood samples from both partners to identify potential genetic abnormalities affecting fertility or offspring health. Recommended for couples planning a family, especially with a history of genetic concerns.
Atypical Hemolytic Uremic Syndrome Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations associated with Atypical Hemolytic Uremic Syndrome (aHUS), a condition affecting the blood and kidneys. Helps understand genetic risks and guide management.
HIV RNA Quantitative Real Time PCR Test
Measures the amount of HIV RNA in your blood to monitor viral load and treatment effectiveness. Essential for managing HIV.
Respiratory Panel 9 Test
The Respiratory Panel 9 Test identifies multiple common viruses and bacteria that cause respiratory infections, such as influenza, coronaviruses, and RSV. This comprehensive test helps diagnose the specific cause of respiratory symptoms.
COL6A1 Gene Bethlem Myopathy Genetic Test
The COL6A1 Gene Bethlem Myopathy NGS Genetic DNA Test uses advanced sequencing technology to identify mutations in the COL6A1 gene, aiding in the diagnosis of Bethlem myopathy, a rare genetic condition affecting muscles and joints. Confirm with the laboratory before booking.
FMR1 Gene Fragile X Syndrome Genetic Test
Genetic test to detect mutations in the FMR1 gene associated with Fragile X syndrome, a common cause of inherited intellectual disability. Uses Next-Generation Sequencing (NGS) for accurate analysis.
TSPAN7 Gene Mental Retardation X-Linked Type 58 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TSPAN7 gene, associated with X-linked mental retardation. Helps identify genetic causes of neurological disorders.
ARFGEF2 Gene Periventricular Heterotopia with Microcephaly Genetic Test
Genetic test analyzing the ARFGEF2 gene to identify variations linked to periventricular heterotopia and microcephaly, aiding in the diagnosis of neurological disorders.
ADSL Gene Adenylosuccinase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ADSL gene, aiding in the diagnosis of adenylosuccinase deficiency, a rare metabolic disorder.
CA12 Gene Hyperchlorhidrosis Isolated Genetic Test
Genetic test for isolated hyperhidrosis, analysing the CA12 gene using Next Generation Sequencing (NGS) to identify potential genetic causes of excessive sweating.
Myo1A Gene Deafness Autosomal Dominant Type 48 Genetic Test
Genetic test to identify mutations in the Myo1A gene associated with hereditary hearing loss. Utilizes Next Generation Sequencing (NGS) technology.
DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DSE gene associated with Musculocontractural Ehlers-Danlos Syndrome. Confirm with the laboratory before booking.
CARD14 Gene Psoriasis Type 2 Genetic Test
This genetic test identifies mutations in the CARD14 gene associated with psoriasis type 2, helping to assess risk and inform management. Confirm with the laboratory before booking.
SMAD6 Gene Aortic Valve Disease Type 2 Genetic Test
The SMAD6 Gene Aortic Valve Disease Type 2 NGS Genetic DNA Test identifies genetic variations linked to aortic valve disease risk. This test uses Next Generation Sequencing (NGS) to analyze your DNA.
WDR19 Gene Senior-Loken Syndrome Type 8 Genetic Test
Genetic test to identify mutations in the WDR19 gene associated with Senior-Loken syndrome, a condition affecting kidneys and vision. Confirm with the laboratory before booking.
Disp1 Gene Craniofacial and Neurodevelopmental Abnormalities Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DISP1 gene for mutations associated with craniofacial and neurodevelopmental abnormalities. Helps identify genetic predispositions for early diagnosis and management.
Dync2h1 Gene Short-Rib Thoracic Dysplasia Type 3 With or Without Polydactyly Genetic Test
Genetic test to identify mutations in the DYNC2H1 gene associated with Short-Rib Thoracic Dysplasia Type 3, a condition affecting skeletal development. Suitable for individuals with relevant symptoms or family history.
Pik3ca By Ngs
The PIK3CA by NGS test analyzes the PIK3CA gene for mutations associated with certain cancers, particularly breast cancer. This genetic test helps assess cancer risk and inform treatment decisions.
Rsv B Viral Load Quantitative Test
The Rsv B Viral Load Quantitative Test detects and measures the amount of Respiratory Syncytial Virus (RSV) B in respiratory samples, aiding in the diagnosis and management of RSV B infections.
Pancreatitis Panel Genetic Test
A genetic test using Next Generation Sequencing (NGS) to identify genetic predispositions to pancreatitis. Useful for individuals with a family history of pancreatitis or related disorders.
Angelman Syndrome Test
The Angelman Syndrome Test helps diagnose Angelman syndrome, a genetic disorder affecting the nervous system. Early diagnosis supports effective management.
COL6A2 Gene Bethlem Myopathy Genetic Test
Genetic test for mutations in the COL6A2 gene associated with Bethlem myopathy, a rare neuromuscular disorder. Helps confirm diagnosis and guide management.
FXN Gene Friedreich Ataxia Genetic Test
Genetic test to identify mutations in the FXN gene associated with Friedreich's ataxia, a neurological disorder. Uses Next-Generation Sequencing (NGS) for accurate analysis.
ACSL4 Gene Mental Retardation X-Linked Type 63 Genetic Test
This genetic test identifies mutations in the ACSL4 gene, associated with X-linked mental retardation. It uses Next Generation Sequencing (NGS) technology to help diagnose the genetic cause of neurological disorders.
PEX3 Gene Peroxisome Biogenesis Disorder Type 10A Genetic Test
The PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test uses advanced sequencing technology to identify mutations in the PEX3 gene, aiding in the diagnosis of specific neurological disorders. Confirm with the laboratory before booking.
Por Gene Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the POR gene for mutations causing adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. Aids in diagnosing rare metabolic disorders.
TJP2 Gene Hypercholanemia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TJP2 gene associated with hypercholanemia, a metabolic disorder affecting bile acid metabolism.
GSDME Gene Deafness Autosomal Dominant Type 5 Genetic Test
This genetic test identifies mutations in the GSDME gene associated with autosomal dominant hearing loss, using Next-Generation Sequencing (NGS) technology. It can help understand the genetic basis of hearing loss, particularly in families with a history of the condition.
B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the B4GALT7 gene, associated with Ehlers-Danlos Syndrome Progeroid Type 1. Helps confirm diagnosis and guide management.
IL36RN Gene Psoriasis Generalized Pustular Genetic Test
Genetic test analyzing the IL36RN gene to identify predispositions to generalized pustular psoriasis, aiding in diagnosis and personalized management.
ENPP1 Gene Arterial Calcification Type 1 Generalized Infantile Genetic Test
Genetic test for Arterial Calcification Type 1, a rare vascular disease in infants, using Next-Generation Sequencing (NGS) to analyze the ENPP1 gene. Helps identify genetic predisposition and guide management.
SLC5A5 Gene Thyroid Dyshormonogenesis Type 1 Genetic Test
Genetic test to identify mutations in the SLC5A5 gene associated with thyroid dyshormonogenesis type 1, aiding in the diagnosis and management of thyroid disorders.
VSX1 Gene Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the VSX1 gene for variations linked to craniofacial anomalies and anterior segment dysgenesis. Helps in diagnosing genetic conditions and guiding management.
TTC21B Gene Short-Rib Thoracic Dysplasia Type 4 With or Without Polydactyly Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TTC21B gene, associated with Short-Rib Thoracic Dysplasia Type 4 and polydactyly.
Pik3ca Mutation Analysis Exon 7, 9 & 20
The PIK3CA Mutation Analysis Exon 7, 9 & 20 is a genetic test to detect specific mutations in the PIK3CA gene, often linked to certain cancers. This information can help guide treatment decisions.
Rsv A Rna Detection Qualitative Test
Detects the presence of Respiratory Syncytial Virus (RSV) type A RNA in respiratory samples to confirm an active infection. Essential for diagnosing respiratory illnesses, especially in high-risk groups.
SHBG Gene Androgen-Binding Protein Deficiency Genetic Test
Genetic test to identify mutations in the SHBG gene, which can cause hormonal imbalances. Helps diagnose conditions like infertility and metabolic syndrome.
COL6A3 Gene Bethlem Myopathy Type 1 Genetic Test
Genetic test to identify mutations in the COL6A3 gene associated with Bethlem Myopathy, a rare muscle disorder. Uses Next Generation Sequencing (NGS) technology.
FLNA Gene Frontometaphyseal Dysplasia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FLNA gene associated with frontometaphyseal dysplasia and related neurological disorders.
RAB39B Gene Mental Retardation X-Linked Type 72 Genetic Test
This genetic test identifies mutations in the RAB39B gene, which are associated with a specific type of X-linked mental retardation. It uses Next Generation Sequencing (NGS) technology to analyze DNA from a blood sample.
Pex11b Gene Peroxisome Biogenesis Disorder 14B Genetic Test
The Pex11b Gene Peroxisome Biogenesis Disorder 14B NGS Genetic DNA Test helps identify genetic mutations linked to peroxisome biogenesis disorders, which can cause neurological conditions. This test uses advanced Next-Generation Sequencing (NGS) technology.
CYP21A2 Gene Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CYP21A2 gene, associated with 21-hydroxylase deficiency and adrenal hyperplasia. Aids in diagnosis and management.
BAAT Gene Hypercholanemia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the BAAT gene for variations associated with hypercholanemia, a metabolic disorder involving elevated bile acid levels. Helps diagnose and manage related conditions.
CEACAM16 Gene Deafness Autosomal Dominant Type 4B Genetic Test
Genetic test to identify mutations in the CEACAM16 gene associated with hereditary hearing loss (Autosomal Dominant Type 4B). Useful for individuals with a family history of deafness.
GATA2 Gene Emberger Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GATA2 gene, associated with Emberger syndrome and related immunological and dermatological conditions. Helps identify genetic predispositions for early diagnosis and management.
CHRNG Gene Pterygium Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CHRNG gene associated with Pterygium syndrome. Helps understand genetic predisposition and inform management strategies.
ABCC6 Gene Arterial Calcification Type 2 Generalized Infantile Genetic Test
Genetic test to identify variations in the ABCC6 gene associated with Arterial Calcification Type 2, a rare condition affecting blood vessels. Utilizes Next-Generation Sequencing (NGS) technology.
RBM8A Gene Thromocytopenia Absent Radius Syndrome Genetic Test
Genetic test to identify mutations in the RBM8A gene associated with Thrombocytopenia Absent Radius Syndrome. Recommended for individuals with symptoms or family history.
ANKH Gene Craniometaphyseal Dysplasia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ANKH gene associated with craniometaphyseal dysplasia (CMD).
WDR19 Gene Short-Rib Thoracic Dysplasia Type 5 With or Without Polydactyly Genetic Test
This genetic test identifies mutations in the WDR19 gene associated with Short-Rib Thoracic Dysplasia Type 5, a condition affecting skeletal development. It uses Next-Generation Sequencing (NGS) technology.
Plasmcytosis
The Plasmcytosis test helps detect abnormal plasma cells, aiding in the diagnosis of conditions like multiple myeloma. Early detection can improve treatment outcomes.
Rsv B Rna Detection Qualitative Test
Detects the presence of Respiratory Syncytial Virus type B (RSV B) RNA in respiratory samples using Real Time PCR. Essential for diagnosing RSV B infections, especially in high-risk groups.
ESR1 Gene Estrogen Resistance Genetic Test
Genetic test to identify variations in the ESR1 gene associated with estrogen resistance, relevant for conditions in hepatology, nephrology, and endocrinology.
COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test
This genetic test analyzes the COL12A1 gene to help diagnose Bethlem myopathy type 2, a rare neuromuscular disorder. It uses Next Generation Sequencing (NGS) technology.
FUCA1 Gene Fucosidosis Genetic Test
The FUCA1 Gene Fucosidosis NGS Genetic DNA Test identifies mutations in the FUCA1 gene associated with fucosidosis, a rare neurological disorder. This test aids in diagnosis and management for individuals with relevant symptoms or family history.
AGTR2 Gene Mental Retardation X-Linked Type 88 AGTR2 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the AGTR2 gene, associated with X-linked mental retardation. Helps diagnose neurological disorders.
PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PEX1 gene associated with peroxisome biogenesis disorder type 1B, a rare neurological condition. Recommended for individuals with relevant family history or symptoms.
CYP11B1 Gene Adrenal Hyperplasia Due to Steroid 11-Beta-Hydroxylase Deficiency Genetic Test
Genetic test for steroid 11-beta-hydroxylase deficiency, a cause of adrenal hyperplasia. Uses Next-Generation Sequencing (NGS) to identify mutations in the CYP11B1 gene.
PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 Genetic Test
This genetic test identifies mutations in the PCSK9 gene linked to autosomal dominant hypercholesterolemia, a condition causing high cholesterol. It uses Next-Generation Sequencing (NGS) to analyze your DNA.
POU4F3 Gene Deafness Autosomal Dominant Type 52 Genetic Test
Genetic test to identify mutations in the POU4F3 gene associated with autosomal dominant hearing loss. Utilizes Next Generation Sequencing (NGS) technology.
B3GALT6 Gene Ehlers-Danlos Syndrome Progeroid Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the B3GALT6 gene, associated with Ehlers-Danlos Syndrome Progeroid Type 2. Helps diagnose genetic predispositions.
TERT Gene Pulmonary Fibrosis and/or Bone Marrow Failure Telomere-Related Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the TERT gene for variations associated with pulmonary fibrosis and bone marrow failure. Helps in understanding genetic risk and guiding management.
SOAT1 Gene Atherosclerosis SOAT1 Related Genetic Test
Assess your genetic predisposition to atherosclerosis with the SOAT1 Gene Atherosclerosis Genetic Test. Understand your risk for vascular diseases and enable early intervention.
TPO Gene Thyroid Dyshormonogenesis Type 2A Genetic Test
This genetic test analyzes the TPO gene to identify mutations linked to thyroid hormone production issues, aiding in the diagnosis of thyroid dyshormonogenesis Type 2A.
EFNB1 Gene Craniofrontonasal Syndrome Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to detect mutations in the EFNB1 gene, aiding in the diagnosis of craniofrontonasal syndrome, a condition affecting facial and cranial development. Confirm with the laboratory before booking.
NEK1 Gene Short-Rib Thoracic Dysplasia Type 6 with or without Polydactyly Genetic Test
Genetic test to identify mutations in the NEK1 gene associated with Short-Rib Thoracic Dysplasia Type 6 (SRTD6), a rare skeletal disorder. Helps in diagnosis and family planning.
TCTN2 Gene Meckel Syndrome Type 8 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TCTN2 gene for mutations associated with Meckel syndrome. Helps identify potential health risks.
MPL Myeloproliferative Leukemia Gene Mutation Test
Detects genetic mutations in the MPL gene associated with myeloproliferative neoplasms (MPNs), aiding in diagnosis and treatment planning.
Rett Syndrome Detection Test
A genetic test to identify mutations in the MECP2 gene associated with Rett syndrome, a neurological disorder primarily affecting girls. Early diagnosis aids in management and support.
PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test
Genetic test to identify mutations in the PHF6 gene associated with Borjeson-Forssman-Lehmann syndrome, a rare neurological disorder. Helps in diagnosis and management.
KCNMA1 Gene Generalized Epilepsy and Paroxysmal Dyskinesia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KCNMA1 gene for variants associated with generalized epilepsy and paroxysmal dyskinesia. Helps identify the genetic basis for neurological symptoms.
ZNF41 Gene Mental Retardation X-Linked Type 89 Genetic Test
This genetic test analyzes the ZNF41 gene to identify mutations associated with X-linked mental retardation type 89. It uses Next Generation Sequencing (NGS) technology.
Pex5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test
Genetic test to identify mutations in the PEX5 gene, aiding in the diagnosis of Peroxisome Biogenesis Disorder Type 2A, often associated with neurological symptoms.
ATIC Gene AICAribosiduria Due to ATIC Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ATIC gene associated with AICA-ribosiduria, a metabolic disorder. Helps diagnose and manage conditions related to ATIC deficiency.
Ldlrap1 Gene Hypercholesterolemia Autosomal Recessive Genetic Test
The LDLRAP1 Gene Hypercholesterolemia Autosomal Recessive NGS Genetic DNA Test identifies genetic mutations linked to high cholesterol levels. This test uses advanced sequencing technology to help diagnose genetic predispositions to hypercholesterolemia, guiding treatment and lifestyle adjustments. Recommended for individuals with a family history or symptoms of high cholesterol.
WFS1 Gene Deafness Autosomal Dominant Type 6 Genetic Test
This genetic test identifies mutations in the WFS1 gene, a known cause of autosomal dominant hearing loss. It helps diagnose genetic hearing impairment, especially in families with a history of deafness.
COL7A1 Gene Epidermolysis Bullosa Dystrophica Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the COL7A1 gene associated with Epidermolysis Bullosa Dystrophica (EBD). Helps diagnose EBD, guide treatment, and inform family planning.
PARN Gene Pulmonary Fibrosis and Bone Marrow Failure Telomere-Related Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PARN gene, associated with risks for pulmonary fibrosis and bone marrow failure. Confirm with the laboratory before booking.
GP1BA Gene Bernard Soulier Syndrome Type A1 Genetic Test
Genetic test to identify mutations in the GP1BA gene associated with Bernard-Soulier syndrome, a rare bleeding disorder. Uses Next Generation Sequencing (NGS) for accurate results.
TG Gene Thyroid Dyshormonogenesis Type 3 Genetic Test
Genetic test to identify mutations in the TG gene associated with thyroid dyshormonogenesis type 3. Uses Next-Generation Sequencing (NGS) technology.
MSX2 Gene Craniosynostosis Type 2 Genetic Test
The MSX2 Gene Craniosynostosis Type 2 Genetic Test uses Next-Generation Sequencing (NGS) to identify mutations in the MSX2 gene associated with craniosynostosis, a condition affecting skull development. This test helps understand genetic risks and guide management.
WDR60 Gene Short-Rib Thoracic Dysplasia Type 8 with or without Polydactyly Genetic Test
Genetic test to identify mutations in the WDR60 gene associated with Short-Rib Thoracic Dysplasia Type 8, a rare skeletal disorder. Utilizes Next-Generation Sequencing (NGS) for accurate diagnosis.
PMLRARA Qualitative BCR 1 3
The PMLRARA Qualitative BCR 1 3 test detects a specific genetic fusion gene associated with certain types of leukemia, aiding in diagnosis and treatment planning.
ATP7A Gene Menkes Disease Genetic Test
Genetic test for Menkes disease, a disorder affecting copper metabolism. Helps in early diagnosis and management.
HLA A2 A02 Test
The HLA A2 A02 Test identifies specific genetic markers linked to certain diseases, particularly those affecting neurological health. This test helps understand individual genetic predispositions.
MTHFR Gene Mutation Qualitative PCR Test
The MTHFR Gene Mutation Qualitative PCR Test identifies genetic variations in the MTHFR gene, which can influence the risk of thromboembolic disorders like blood clots. This test helps assess genetic predisposition for personalized healthcare.
ATP2A1 Gene Brody Myopathy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ATP2A1 gene associated with Brody myopathy, a rare neurological disorder. Helps understand genetic risks and inform health decisions.
Fktn Gene Fukuyama Congenital Muscular Dystrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the FKTN gene, aiding in the diagnosis of Fukuyama Congenital Muscular Dystrophy (FCMD), a serious neurological disorder affecting muscle function.
DLG3 Gene Mental Retardation X-Linked Type 90 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DLG3 gene, associated with X-linked mental retardation. Helps diagnose neurological disorders and informs treatment.
PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test
Genetic test to identify mutations in the PEX5 gene, associated with Peroxisome Biogenesis Disorder Type 2B, a neurological condition. Aids in early diagnosis and management.
NR0B1 Gene Adrenal Hypoplasia Genetic Test
The NR0B1 Gene Adrenal Hypoplasia NGS Genetic DNA Test identifies mutations in the NR0B1 gene associated with adrenal hypoplasia, a metabolic disorder affecting hormone production. This test uses Next Generation Sequencing (NGS) technology.
LDLR Gene Hypercholesterolemia due to LDL-Receptor Disorder Autosomal Dominant Genetic Test
Genetic test to identify mutations in the LDLR gene associated with hypercholesterolemia (high cholesterol), using Next Generation Sequencing (NGS).
DIABLO Gene Deafness Autosomal Dominant Type 64 Genetic Test
Genetic test for mutations in the DIABLO gene associated with autosomal dominant hearing loss. Utilizes Next-Generation Sequencing (NGS) technology. Confirm with the laboratory before booking.
MMP1 Gene Epidermolysis Bullosa Dystrophica Autosomal Recessive Modifier of Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the MMP1 gene associated with Epidermolysis Bullosa Dystrophica. Helps understand risk and guide management.
CTSK Gene Pycnodysostosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CTSK gene. Helps diagnose pycnodysostosis, a rare genetic disorder affecting bones and skin. Recommended for individuals with relevant symptoms or family history.
SLC2A10 Gene Arterial Tortuosity Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SLC2A10 gene associated with Arterial Tortuosity Syndrome. Helps diagnose and manage this rare vascular condition.
IYD Gene Thyroid Dyshormonogenesis Type 4 Genetic Test
Genetic test for mutations in the IYD gene associated with thyroid dyshormonogenesis type 4. Helps diagnose genetic causes of thyroid dysfunction.
TWIST1 Gene Craniosynostosis Type 1 Genetic Test
This genetic test identifies mutations in the TWIST1 gene associated with craniosynostosis, a condition involving premature skull bone fusion. It is recommended for individuals with a family history or symptoms of the condition.
WDR35 Gene Short-rib Thoracic Dysplasia Type 7 with or without Polydactyly Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the WDR35 gene, associated with Short-rib Thoracic Dysplasia Type 7, a type of skeletal dysplasia. Helps in diagnosis and family planning.
BKJC Qualitative PCR
The BKJC Qualitative PCR test detects specific genetic markers using Real-Time PCR technology. It helps identify genetic predispositions and is useful for individuals with family history or unexplained symptoms. A doctor's prescription is required.
PNH Comprehensive Work Up Flowcytometry Flaer CD14 CD15 CD24 CD45 CD59 CD64 GlY-A
A specialized flow cytometry test to diagnose Paroxysmal Nocturnal Hemoglobinuria (PNH), a rare blood disorder. Helps identify specific markers like CD59 and GlY-A.
XPNPEP3 Gene Nephronophthisis-like Nephropathy Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the XPNPEP3 gene associated with nephronophthisis-like nephropathy, a type of kidney disorder. Confirm with the laboratory before booking.
Human Immuno Virus 2 Detection PCR Test
Detects Human Immunodeficiency Virus type 2 (HIV-2) using a sensitive PCR method. Essential for diagnosing HIV-2 infection and guiding timely healthcare.
Mucopolysaccharidosis MPS Screen Urine Test
A urine test to screen for Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders. Early detection helps with management and treatment.
MAOA Gene Brunner Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MAOA gene, associated with Brunner Syndrome and other neurological disorders. Helps understand genetic predispositions.
SCN1A Gene Generalized Epilepsy with Febrile Seizures Plus Type 2 Genetic Test
Genetic test analyzing the SCN1A gene to help diagnose epilepsy and related neurological disorders, particularly those associated with febrile seizures.
ZDHHC15 Gene Mental Retardation X-Linked Type 91 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ZDHHC15 gene, aiding in the diagnosis of certain neurological disorders associated with cognitive impairment. Confirm with the laboratory before booking.
HSD17B4 Gene Perrault Syndrome Genetic Test
Genetic test to identify mutations in the HSD17B4 gene associated with Perrault Syndrome, a rare condition linked to neurological disorders. This test uses Next Generation Sequencing (NGS) technology.
A2M Gene Alpha-2-Macroglobulin Deficiency Genetic Test
Genetic test to detect mutations in the A2M gene associated with Alpha-2-Macroglobulin deficiency, a metabolic disorder. Helps identify predisposition and inform management.
EPHX2 Gene Hypercholesterolemia Familial Due to LDLR Defect Modifier of Genetic Test
Genetic test for the EPHX2 gene to understand familial hypercholesterolemia linked to LDL receptor defects. Helps assess cholesterol metabolism and cardiovascular risk.
TBC1D24 Gene Deafness Autosomal Dominant Type 65 Genetic Test
Genetic test to identify mutations in the TBC1D24 gene associated with autosomal dominant hearing loss. Useful for individuals with a family history of deafness.
ITGA6 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ITGA6 gene associated with Epidermolysis Bullosa Junctionalis and Pyloric Atresia.
MYD88 Gene Pyogenic Bacterial Infections Recurrent Due to MYD88 Deficiency Genetic Test
Genetic test to identify mutations in the MYD88 gene associated with recurrent bacterial infections. Uses Next-Generation Sequencing (NGS) technology.
GP1BB Gene Bernard Soulier Syndrome Type B Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the GP1BB gene, associated with Bernard-Soulier syndrome and bleeding tendencies.
DUOXA2 Gene Thyroid Dyshormonogenesis Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the DUOXA2 gene for mutations related to thyroid hormone production and congenital hypothyroidism. Confirm with the laboratory before booking.
Tcf12 Gene Craniosynostosis Type 3 Genetic Test
The Tcf12 Gene Craniosynostosis Type 3 NGS Genetic DNA Test helps identify genetic variations in the TCF12 gene linked to craniosynostosis, a condition involving premature fusion of skull bones. This test aids in diagnosis and informed decision-making for families.
SKI Gene Shprintzen-Goldberg Syndrome Genetic Test
Genetic test to identify mutations in the SKI gene associated with Shprintzen-Goldberg syndrome, a condition linked to physical anomalies and developmental challenges.
PMLRARA Quantitative Single Form
The PMLRARA Quantitative Single Form test detects genetic abnormalities linked to specific blood disorders, like acute promyelocytic leukemia (APL). This test helps in diagnosis and monitoring treatment.
GLIS2 Gene Nephronophthisis Type 7 Genetic Test
Genetic test to identify mutations in the GLIS2 gene associated with Nephronophthisis Type 7, a rare kidney disorder. Uses Next-Generation Sequencing (NGS) technology.
Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test
The Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test measures alpha-L-iduronidase enzyme activity to help diagnose MPS Type 1, a rare genetic disorder affecting sugar breakdown. Early diagnosis is key for management.
F5 Gene Budd-Chiari Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the F5 gene associated with an increased risk of Budd-Chiari syndrome, a condition affecting liver blood flow.
SCN1B Gene Generalized Epilepsy With Febrile Seizures Plus Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the SCN1B gene, identifying mutations associated with generalized epilepsy and febrile seizures. Aids in diagnosis and personalized treatment.
BRWD3 Gene Mental Retardation X-Linked Type 93 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the BRWD3 gene, associated with X-linked mental retardation. Helps diagnose neurological disorders and understand developmental delays.
HARS2 Gene Perrault Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the HARS2 gene for mutations associated with Perrault syndrome, a neurological disorder. Confirm with the laboratory before booking.
HGD Gene Alkaptonuria Genetic Test
Genetic test to identify mutations in the HGD gene, responsible for Alkaptonuria, a rare metabolic disorder. Uses Next-Generation Sequencing (NGS) for accurate results.
APOB Gene Hypercholesterolemia Type B Autosomal Dominant Genetic Test
Genetic test for mutations in the APOB gene associated with Familial Hypercholesterolemia Type B, an autosomal dominant condition linked to high cholesterol levels and increased cardiovascular risk.
Coch Gene Deafness Autosomal Dominant Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the COCH gene associated with autosomal dominant hearing loss. Helps understand genetic predisposition to hearing impairment.
ITGB4 Gene Epidermolysis Bullosa Junctionalis with Pyloric Atresia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ITGB4 gene, identifying mutations linked to epidermolysis bullosa junctionalis and pyloric atresia. Useful for individuals with relevant symptoms or family history.
FGFRL1 Gene Radioulnar Synostosis FGFRL1 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the FGFRL1 gene associated with radioulnar synostosis and related bone development disorders.
GP1BA Gene Bernard Soulier Syndrome Type A2 Genetic Test
Genetic test to identify mutations in the GP1BA gene associated with Bernard-Soulier syndrome, a rare inherited bleeding disorder. Helps in diagnosis, treatment guidance, and family planning.
DUOX1 Gene Thyroid Dyshormonogenesis Type 6 Genetic Test
Genetic test for mutations in the DUOX1 gene, associated with thyroid dyshormonogenesis type 6. Uses Next Generation Sequencing (NGS) to help understand genetic factors contributing to thyroid dysfunction.
ERF Gene Craniosynostosis Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ERF gene associated with craniosynostosis type 4, aiding in diagnosis and management.
Maternal UPD Chr 7 Gene Silver-Russell Syndrome Genetic Test
This genetic test identifies maternal uniparental disomy (UPD) on chromosome 7, a potential cause of Silver-Russell syndrome, which affects growth and development. Confirm with the laboratory before booking.
Pol Gene Mutation Analysis
Pol Gene Mutation Analysis identifies mutations in the POL gene, which can influence cancer treatment decisions. This test helps guide personalized therapy options.
PLCE1 Gene Nephrotic Syndrome Type 3 Genetic Test
Genetic test analyzing the PLCE1 gene for mutations associated with Nephrotic Syndrome Type 3, a kidney disorder. Helps identify genetic risks and inform management.
Mucopolysaccharidosis MPS Type VI Maroteaux Lamy Quantitative Blood Test
A genetic blood test to help diagnose Mucopolysaccharidosis (MPS) Type VI, also known as Maroteaux-Lamy syndrome, a rare metabolic disorder.
ASPA Gene Canavan Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ASPA gene associated with Canavan Disease, a severe neurological disorder. Helps identify genetic risk and inform management.
GABRG2 Gene Generalized Epilepsy with Febrile Seizures Plus Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the GABRG2 gene associated with generalized epilepsy and febrile seizures. Helps in diagnosing genetic causes of epilepsy, especially for those with a family history.
ZNF674 Gene Mental Retardation X-Linked Type 92 Genetic Test
This genetic test identifies mutations in the ZNF674 gene, associated with X-linked mental retardation. It uses Next Generation Sequencing (NGS) technology to analyze genetic material for alterations linked to neurological disorders.
LARS2 Gene Perrault Syndrome Type 4 Genetic Test
The LARS2 Gene Perrault Syndrome Type 4 NGS Genetic DNA Test identifies genetic mutations linked to Perrault syndrome, a neurological disorder. This test uses Next Generation Sequencing (NGS) to analyze the LARS2 gene. Confirm with the laboratory before booking.
OGDH Gene Alphaketoglutarate Dehydrogenase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the OGDH gene, associated with Alphaketoglutarate Dehydrogenase Deficiency, a metabolic disorder. Helps in early diagnosis and management.
ITIH4 Gene Hypercholesterolemia Susceptibility to Genetic Test
Assess your genetic predisposition to hypercholesterolemia with the ITIH4 Gene Susceptibility Test. Identify potential risks early for proactive health management.
SUN1 Gene Deafness Autosomal Recessive Genetic Test
This genetic test identifies mutations in the SUN1 gene associated with autosomal recessive deafness, aiding in the diagnosis of hereditary hearing loss.
KRT5 Gene Epidermolysis Bullosa Simplex Genetic Test
Genetic test to identify mutations in the KRT5 gene associated with Epidermolysis Bullosa Simplex (EBS), a condition causing fragile skin. Uses Next Generation Sequencing (NGS).
PSTPIP1 Gene Pyogenic Sterile Arthritis Pyoderma Gangrenosum and Acne Genetic Test
Genetic test analyzing the PSTPIP1 gene to identify predispositions linked to pyogenic sterile arthritis, pyoderma gangrenosum, and acne. Utilizes Next-Generation Sequencing (NGS) technology.
GP9 Gene Bernard Soulier Syndrome Type C Genetic Test
This genetic test identifies mutations in the GP9 gene, helping to diagnose Bernard-Soulier Syndrome, a rare inherited bleeding disorder. Utilizes Next-Generation Sequencing (NGS) technology.
DUOX2 Gene Thyroid Dyshormonogenesis Type 6 Genetic Test
Genetic test to identify mutations in the DUOX2 gene associated with thyroid dysfunction, aiding in diagnosis and management.
ZIC1 Gene Craniosynostosis Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ZIC1 gene associated with craniosynostosis, a condition involving premature skull bone fusion. Aids in diagnosis and treatment planning.
Chr 11p15 Gene Silver-Russell Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify alterations in the chr 11p15 region associated with Silver-Russell syndrome, a condition affecting growth and development.
Bone Marrow for Karyotyping
The Bone Marrow for Karyotyping test examines chromosomes in bone marrow or blood to help diagnose genetic disorders, blood conditions, and certain cancers. Confirm with the laboratory before booking.
PraderWilli Syndrome FISH
The Prader-Willi Syndrome FISH test identifies chromosomal abnormalities linked to Prader-Willi Syndrome (PWS), aiding in early diagnosis and management. Confirm with the laboratory before booking.
SOX3 Gene Panhypopituitarism Xlinked Genetic Test
This genetic test identifies mutations in the SOX3 gene, which can cause X-linked panhypopituitarism, a condition affecting pituitary hormone production. It helps understand genetic causes of hormone deficiencies.
HLA B15 B15 Test
The HLA B15 B15 Test identifies a specific genetic marker linked to certain disease risks. This test helps understand individual susceptibility and informs medical decisions. Confirm with the laboratory before booking.
ATP1A3 Gene CAPOS Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ATP1A3 gene associated with CAPOS syndrome, a rare neurological disorder. Confirm with the laboratory before booking.
STX1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the STX1B gene associated with generalized epilepsy and febrile seizures. Helps understand genetic predispositions to neurological disorders.
GRIA3 Gene Mental Retardation X-Linked Type 94 Genetic Test
This genetic test analyzes the GRIA3 gene to identify mutations associated with X-linked mental retardation. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis.
TWNK Gene Perrault Syndrome Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TWNK gene associated with Perrault Syndrome Type 5 and related neurological disorders.
AMACR Gene Alphamethylacyl CoA Racemase Deficiency Genetic Test
The AMACR Gene Alphamethylacyl CoA Racemase Deficiency test identifies genetic mutations linked to metabolic disorders. This genetic DNA test helps in early diagnosis and management.
ApoA2 Gene Hypercholesterolemia Familial Modifier of Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify variations in the ApoA2 gene linked to familial hypercholesterolemia, a condition causing high cholesterol levels. Understanding your genetic risk can help manage cardiovascular health.
GJB3 Gene Deafness Autosomal Recessive Genetic Test
Genetic test to identify mutations in the GJB3 gene, a common cause of inherited hearing loss. Uses Next Generation Sequencing (NGS) technology.
Plec Gene Epidermolysis Bullosa Simplex with Pyloric Atresia Genetic Test
This genetic test identifies mutations in the PLEC gene associated with Epidermolysis Bullosa Simplex and Pyloric Atresia using Next Generation Sequencing (NGS). It helps diagnose these conditions and guide management.
LMNA Gene Restrictive Dermopathy Lethal Genetic Test
Genetic test to identify mutations in the LMNA gene associated with restrictive dermopathy, a severe skin and connective tissue disorder. Helps understand genetic risks and inform management.
Notch3 Gene Cadasil Genetic Test
Genetic test to identify mutations in the Notch3 gene associated with CADASIL, a hereditary vascular disorder affecting the brain. Uses Next-Generation Sequencing (NGS) technology.
Thrb Gene Thyroid Hormone Resistance Genetic Test
Genetic test to identify mutations in the THRB gene associated with thyroid hormone resistance. Helps diagnose unexplained thyroid dysfunction.
FGFR2 Gene Craniosynostosis Nonspecific Genetic Test
This genetic test analyzes the FGFR2 gene to identify mutations associated with craniosynostosis, a condition affecting skull development. It uses Next-Generation Sequencing (NGS) technology.
CBFB Gene Skeletal Abnormalities CBFB Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CBFB gene associated with skeletal abnormalities. Helps in diagnosing and managing conditions related to dysmorphology.
Bone Marrow Failure Syndrome
This genetic test helps diagnose Bone Marrow Failure Syndromes, conditions where the bone marrow doesn't produce enough blood cells. It's important for individuals experiencing symptoms like fatigue, infections, or bruising.
Polycystic Kidney Disease Gene Panel
Genetic test to identify mutations associated with Polycystic Kidney Disease (PKD), aiding in early diagnosis and management. Available across Kenya with home sample collection.
Streptococcus Mutans Bacterial Load Test
Measures the levels of Streptococcus mutans bacteria in saliva and dental plaque to assess the risk of dental caries (tooth decay).
RPS26 Gene Diamond-Blackfan Anemia Type 10 Genetic Test
The RPS26 Gene Diamond-Blackfan Anemia Type 10 NGS Genetic DNA Test identifies mutations in the RPS26 gene associated with Diamond-Blackfan anemia, a rare inherited blood disorder. This test aids in diagnosis and management.
HLA B22 B22 Test
The HLA B22 B22 Test identifies specific genetic markers linked to various diseases, aiding in understanding immune response and potential health risks.
LDB3 Gene Cardiomyopathy Hypertrophic Type 24 Genetic Test
Genetic test analyzing the LDB3 gene to identify mutations associated with hypertrophic cardiomyopathy (HCM), a condition causing heart muscle thickening. Uses Next Generation Sequencing (NGS).
SCN9A Gene Generalized Epilepsy with Febrile Seizures Plus Type 7 Genetic Test
Genetic test analyzing the SCN9A gene to identify mutations associated with Generalized Epilepsy with Febrile Seizures Plus Type 7. Uses Next-Generation Sequencing (NGS) technology.
MAGT1 Gene Mental Retardation X-Linked Type 95 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MAGT1 gene associated with X-linked mental retardation. Helps diagnose neurological disorders and informs treatment planning.
PGK1 Gene Phosphoglycerate Kinase 1 Deficiency Genetic Test
Genetic test to identify mutations in the PGK1 gene associated with phosphoglycerate kinase 1 deficiency, a condition linked to neurological disorders.
ACY1 Gene Aminoacylase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ACY1 gene, associated with aminoacylase deficiency, a type of metabolic disorder. Helps diagnose and manage related health conditions.
G6PC2 Gene Hyperinsulinaemia Association with G6PC2 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the G6PC2 gene associated with hyperinsulinaemia and related metabolic disorders.
CDH23 Gene Deafness Autosomal Recessive Type 12 Genetic Test
Genetic test to identify mutations in the CDH23 gene associated with autosomal recessive hearing loss, using Next-Generation Sequencing (NGS).
KRT14 Gene Epidermolysis Bullosa Simplex Autosomal Recessive Type 1 Genetic Test
Genetic test to identify mutations in the KRT14 gene associated with Epidermolysis Bullosa Simplex Autosomal Recessive Type 1, a condition causing fragile, blistering skin.
FAM20C Gene Raine Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FAM20C gene for mutations associated with Raine syndrome, a rare genetic disorder.
RASA1 Gene Capillary Malformation-Arteriovenous Malformation Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RASA1 gene, associated with capillary malformations and arteriovenous malformations. Helps diagnose vascular diseases and guide treatment.
SECISBP2 Gene Thyroid Hormone Metabolism Abnormal Genetic Test
Genetic test analyzing the SECISBP2 gene to identify variations affecting thyroid hormone metabolism. Recommended for individuals with thyroid dysfunction symptoms or a family history of related disorders.
FGFR1 Gene Craniosynostosis FGFR1 Related Genetic Test
Genetic test analyzing the FGFR1 gene to identify mutations associated with craniosynostosis, a condition involving premature skull suture closure. Useful for families with a history of the condition.
ZBTB16 Gene Skeletal Defects Genital Hypoplasia and Mental Retardation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the ZBTB16 gene associated with skeletal defects, genital hypoplasia, and developmental delays. Helps in diagnosis and management.
BRAF Mutation Analysis V600E
The BRAF Mutation Analysis V600E test detects specific mutations in the BRAF gene, often linked to cancers like melanoma. This genetic test helps guide personalized treatment decisions. Confirm with the laboratory before booking.
Prader-Willi Syndrome Karyotyping FISH
A genetic test using Karyotyping and FISH to detect chromosomal abnormalities associated with Prader-Willi Syndrome (PWS).
JAG2 Gene Craniofacial and Neurodevelopmental Abnormalities JAG2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the JAG2 gene associated with craniofacial and neurodevelopmental abnormalities.
FISH Microdeletion Detection for Williams Syndrome Test
This genetic test uses FISH technology to detect microdeletions on chromosome 7 associated with Williams Syndrome, a condition causing developmental delays and cardiovascular issues. Early detection aids management.
HLA B27 Qualitative PCR Test
The HLA B27 Qualitative PCR Test detects the presence of the HLA B27 antigen, often associated with autoimmune conditions like spondyloarthritis. This test can aid in diagnosis and management.
Ryr1 Gene Central Core Disease Genetic Test
Genetic test to identify mutations in the RYR1 gene associated with central core disease, a rare neuromuscular disorder. Utilizes Next Generation Sequencing (NGS) technology.
PRNP Gene Gerstmann-Straussler Disease Genetic Test
Genetic test to identify mutations in the PRNP gene associated with Gerstmann-Straussler syndrome, a rare neurodegenerative disorder. Uses Next-Generation Sequencing (NGS) technology.
SYP Gene Mental Retardation X-Linked Type 96 Genetic Test
This genetic test identifies mutations in the SYP gene associated with X-linked mental retardation type 96, using Next Generation Sequencing (NGS) technology. It helps diagnose the genetic cause of certain neurological disorders.
PSEN1 Gene Pick Disease Genetic Test
Genetic test analysing the PSEN1 gene for mutations associated with Pick's disease, a form of frontotemporal dementia. Utilises Next Generation Sequencing (NGS) technology.
AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test
Genetic test to detect mutations in the AMPD3 gene, associated with AMP deaminase deficiency, a metabolic disorder. Uses Next-Generation Sequencing (NGS) for accurate results.
Apoa5 Gene Hyperchylomicronemia Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the APOA5 gene associated with hyperchylomicronemia, a metabolic disorder involving high triglyceride levels.
STRC Gene Deafness Autosomal Recessive Type 16 Genetic Test
This genetic test identifies mutations in the STRC gene, a known cause of hereditary hearing loss. It uses Next Generation Sequencing (NGS) to provide a detailed analysis for individuals with hearing loss or a family history of deafness.
KRT14 Gene Epidermolysis Bullosa Simplex Dowling-Meara Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KRT14 gene for mutations associated with Epidermolysis Bullosa Simplex Dowling-Meara type. Helps diagnose this rare skin disorder, especially relevant for individuals with a family history.
ZMPSTE24 Gene Restrictive Dermopathy Lethal Genetic Test
This genetic test identifies mutations in the ZMPSTE24 gene associated with restrictive dermopathy, a rare skin disorder. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis.
Htra1 Gene Carasil Genetic Test
This genetic test identifies mutations in the HTRA1 gene associated with CARASIL, a rare condition causing vascular disease. It helps assess risk for individuals with relevant family history or symptoms.
HADHB Gene Trifunctional Protein Deficiency Genetic Test
Genetic test to identify mutations in the HADHB gene, associated with trifunctional protein deficiency, a metabolic disorder. Helps in early diagnosis and management.
ERCC6 Gene De Sanctis-Cacchione Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ERCC6 gene associated with De Sanctis-Cacchione syndrome. Aids in early diagnosis and management.
COL2A1 Gene SMED Strudwick Type Genetic Test
Genetic test to identify mutations in the COL2A1 gene, associated with certain connective tissue disorders and dysmorphologies. Uses Next Generation Sequencing (NGS) technology.
CAH Deletion Duplication Detection
Genetic test to identify deletions or duplications in genes associated with Congenital Adrenal Hyperplasia (CAH), aiding in early diagnosis and management.
Preimplantation Genetic Disorder PGD Single Embryo
Preimplantation Genetic Disorder (PGD) Single Embryo testing identifies genetic abnormalities in embryos during IVF to increase the chance of a healthy pregnancy.
Streptococcus Mutans RNA Detection Qualitative Test
Detects the presence of Streptococcus Mutans RNA in saliva or dental plaque, a key indicator for assessing risk related to dental caries (tooth decay).
ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ERCC1 gene for Cerebrooculofacioskeletal Syndrome Type 4, aiding in the diagnosis of related dysmorphology symptoms.
HLA B38 B38 Test
The HLA B38 B38 Test identifies genetic markers linked to certain diseases, aiding in risk assessment for individuals with specific symptoms or family history. Confirm with the laboratory before booking.
Warfarin Sensitivity Detection Test
Understand your body's response to warfarin with our genetic test. This helps determine the right dosage for safe and effective anticoagulation therapy, minimizing risks of bleeding or clots.
CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test
Genetic test to identify mutations in the CTDP1 gene associated with cataracts, facial dysmorphism, and neuropathy. Uses Next Generation Sequencing (NGS) technology.
GAN Gene Giant Axonal Neuropathy Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GAN gene associated with Giant Axonal Neuropathy (GAN). Aids in diagnosing this rare neurological disorder.
AFF2 Gene Mental Retardation X-Linked Associated with Fragile Site FRAXE Genetic Test
This genetic test identifies mutations in the AFF2 gene, associated with X-linked mental retardation. It uses Next Generation Sequencing (NGS) technology to help understand the genetic basis of neurological disorders.
TREM2 Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TREM2 gene associated with specific neurological disorders. Helps understand potential risks and guide management.
ApoA1 Gene Amyloidosis Familial Visceral Genetic Test
Genetic test to identify mutations in the ApoA1 gene associated with familial visceral amyloidosis, a metabolic disorder. Helps in early diagnosis and management.
ABCC8 Gene Hyperinsulinemic Hypoglycemia Type 1 Genetic Test
Genetic test to identify mutations in the ABCC8 gene, a common cause of congenital hyperinsulinemic hypoglycemia. Helps diagnose the genetic basis of persistent low blood sugar.
GIPC3 Gene Deafness Autosomal Recessive Type 15 Genetic Test
Genetic test to identify mutations in the GIPC3 gene associated with autosomal recessive deafness. Helps diagnose hereditary hearing loss and inform family planning.
KRT14 Gene Epidermolysis Bullosa Simplex Koebner Type Genetic Test
Genetic test to identify mutations in the KRT14 gene associated with Epidermolysis Bullosa Simplex Koebner type, a condition causing fragile, easily blistered skin.
AK2 Gene Reticular Dysgenesis Genetic Test
Genetic test to detect mutations in the AK2 gene associated with reticular dysgenesis, a severe immune disorder. Utilizes Next Generation Sequencing (NGS) for accurate analysis.
PPARG Gene Carotid Intimal Medial Thickness Type 1 Genetic Test
Genetic test analyzing the PPARG gene to assess predisposition to carotid intimal medial thickness (CIMT), a marker for vascular disease risk. Uses Next-Generation Sequencing (NGS).
ROBO2 Gene Vesicoureteral Reflux Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the ROBO2 gene associated with vesicoureteral reflux (VUR). Helps understand genetic risk factors for urinary tract issues.
WAC Gene Desanto-Shinawi Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the WAC gene associated with Desanto-Shinawi syndrome, often presenting with dysmorphology.
NSD1 Gene Sotos Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NSD1 gene associated with Sotos syndrome, a condition characterized by overgrowth and developmental delays.
CALR Mutation Analysis Deletion or Insertion in Exon 9
Genetic test to identify deletions or insertions in exon 9 of the CALR gene, aiding in the diagnosis and management of certain blood disorders like essential thrombocythemia and primary myelofibrosis.
Preimplantation Genetic Disorder PGD Single Embryo with Maternal DNA Contamination Check
Preimplantation Genetic Disorder (PGD) testing for a single embryo, including a check for maternal DNA contamination. This test helps identify genetic disorders in embryos before implantation during IVF.
IL11RA Gene Craniosynostosis and Dental Anomalies Genetic Test
Genetic test analyzing the IL11RA gene to identify mutations associated with craniosynostosis (premature skull bone fusion) and dental anomalies. Uses Next-Generation Sequencing (NGS).
HLA B5 B5152 Test
The HLA B5 B5152 Test identifies specific genetic markers (HLA types) associated with certain diseases, aiding in diagnosis and treatment planning. Confirm with the laboratory before booking.
PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test
Genetic test for mutations in the PHOX2B gene associated with Central Hypoventilation Syndrome (CHS) and Hirschsprung disease. Helps diagnose neurological disorders affecting breathing and bowel function.
SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the SLC2A1 gene, helping diagnose GLUT1 Deficiency Syndrome, a rare neurological disorder affecting glucose transport to the brain. Early diagnosis aids in management and treatment planning.
ATP6AP2 Gene Mental Retardation X-Linked With Epilepsy Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to identify mutations in the ATP6AP2 gene, which can be associated with X-linked mental retardation and epilepsy. It helps understand genetic risks and guide healthcare decisions.
TYROBP Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Genetic Test
This genetic test analyzes the TYROBP gene to identify mutations associated with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy, a rare neurological disorder. It helps in understanding genetic predispositions and informing health management.
GBE1 Gene Andersen Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the GBE1 gene associated with Andersen disease, a rare metabolic disorder. Essential for early diagnosis and management.
KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 Genetic Test
Genetic test to identify mutations in the KCNJ11 gene, associated with hyperinsulinemic hypoglycemia type 2, a condition causing low blood sugar. Helps diagnose metabolic disorders related to insulin regulation.
USH1C Gene Deafness Autosomal Recessive Type 18 Genetic Test
Genetic test to identify mutations in the USH1C gene associated with autosomal recessive deafness. Helps understand genetic predisposition to hearing loss, especially with a family history.
Plec Gene Epidermolysis Bullosa Simplex Ogna Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PLEC gene associated with Epidermolysis Bullosa Simplex Ogna type. Helps diagnose this skin fragility disorder.
ADAM10 Gene Reticulate Acropigmentation of Kitamura Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ADAM10 gene, associated with skin conditions like reticulate acropigmentation of Kitamura. Helps identify genetic predispositions.
CCM2 Gene Cerebral Cavernous Malformations Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CCM2 gene, associated with cerebral cavernous malformations (CCMs). Helps identify genetic predisposition to vascular diseases.
Sox17 Gene Vesicoureteral Reflux Type 3 Genetic Test
This genetic test analyzes the Sox17 gene to identify predispositions to vesicoureteral reflux (VUR), a condition where urine flows backward from the bladder to the kidneys. It uses Next-Generation Sequencing (NGS) technology.
XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the XYLT1 gene, aiding in the diagnosis of Desbuquois dysplasia type 2, a rare skeletal development disorder.
DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test
This genetic test identifies mutations in the DHCR7 gene, which cause Smith-Lemli-Opitz syndrome (SLOS), a condition associated with developmental delays and physical abnormalities. Early diagnosis is important for management.
CAH Congenital Adrenal Hyperplasia Full Gene Sequence Analysis
Genetic test for Congenital Adrenal Hyperplasia (CAH), analyzing the CYP21A2 gene to aid in early diagnosis and management. Requires a doctor's prescription.
Preimplantation Genetic Disorder PGD Single Gene Disorder Known Mutation Baseline
Preimplantation Genetic Disorder (PGD) testing for couples undergoing IVF to screen embryos for known single-gene disorders before implantation, helping to prevent hereditary diseases.
FGFR2 Gene Crouzon Syndrome Genetic Test
Genetic test analyzing the FGFR2 gene to identify mutations associated with Crouzon syndrome, a condition causing premature skull bone fusion. Aids in early diagnosis and management.
HLA B7 B07 Test
The HLA B7 B07 Test identifies specific genetic markers linked to autoimmune diseases, aiding in diagnosis and management.
ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Genetic test to identify mutations in the ASCL1 gene associated with congenital central hypoventilation syndrome (CHS), a condition affecting breathing control during sleep.
GCSH Gene Glycine Encephalopathy Genetic Test
The GCSH Gene Glycine Encephalopathy NGS Genetic DNA Test uses advanced sequencing technology to identify genetic mutations associated with Glycine Encephalopathy, a serious neurological disorder. This test helps in early diagnosis and management.
EFHC2 Gene Mental Retardation X-Linked EFHC2 Related Genetic Test
This genetic test identifies mutations in the EFHC2 gene, associated with X-linked mental retardation and developmental delays. It uses Next-Generation Sequencing (NGS) technology.
RBCK1 Gene Polyglucosan Body Myopathy Type 1 With or Without Immunodeficiency Genetic Test
Genetic test for mutations in the RBCK1 gene associated with Polyglucosan Body Myopathy Type 1 and potential immunodeficiency. Helps diagnose rare neurological disorders.
CDAN1 Gene Anemia Dyserythropoietic Type 1A Genetic Test
Genetic test to identify mutations in the CDAN1 gene associated with Dyserythropoietic Anemia Type 1A, a cause of anemia. Uses Next Generation Sequencing (NGS).
GCK Gene Hyperinsulinemic Hypoglycemia Type 3 Genetic Test
Genetic test for mutations in the GCK gene associated with hyperinsulinemic hypoglycemia type 3, using Next Generation Sequencing (NGS) technology.
GJB2 Gene Deafness Autosomal Recessive Type 1A Genetic Test
This genetic test identifies mutations in the GJB2 gene, a common cause of hereditary hearing loss. It uses Next-Generation Sequencing (NGS) technology for accurate results.
KRT14 Gene Epidermolysis Bullosa Simplex Weber-Cockayne Type Genetic Test
Genetic test to identify mutations in the KRT14 gene associated with Epidermolysis Bullosa Simplex (EBS), a condition causing fragile, blistering skin. Helps guide diagnosis and management.
TNFAIP3 Gene Rheumatoid Arthritis TNFAIP3 Related Genetic Test
Genetic test analyzing the TNFAIP3 gene to assess risk factors associated with rheumatoid arthritis. Helps in early diagnosis and personalized treatment planning.
KRIT1 Gene Cerebral Cavernous Malformations Type 1 Genetic Test
Genetic test to identify mutations in the KRIT1 gene associated with Cerebral Cavernous Malformations (CCMs). Helps understand hereditary risk and guide management.
LAS1L Gene Wilson Turner Syndrome Genetic Test
The LAS1L Gene Wilson Turner Syndrome NGS Genetic DNA Test uses advanced sequencing technology to identify genetic variations associated with Wilson Turner Syndrome, aiding in early diagnosis and management.
CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CANT1 gene, aiding in the diagnosis of Desbuquois Dysplasia Type 1, a rare skeletal disorder.
FOXP2 Gene Speech-Language Disorder Type 1 Genetic Test
This genetic test analyzes the FOXP2 gene to identify mutations associated with speech and language disorders. It uses Next Generation Sequencing (NGS) technology to help understand the genetic basis of communication challenges, guiding treatment and counseling.
Cardiac Channelopathy Gene Panel
The Cardiac Channelopathy Gene Panel is a genetic test identifying mutations linked to inherited heart conditions affecting the heart's electrical system. This test aids in diagnosis and management.
Preimplantation Genetic Disorder PGD HLA Typing Single Embryo
Preimplantation Genetic Disorder (PGD) HLA Typing for a Single Embryo is a genetic screening test for couples using IVF to identify potential genetic disorders in embryos before implantation.
MNX1 Gene Currarino Syndrome Genetic Test
Genetic test for mutations in the MNX1 gene associated with Currarino Syndrome. Helps diagnose conditions involving sacral, anorectal, and neurological abnormalities.
HLA C Locus Typing Any Antigen Test
The HLA C Locus Typing Any Antigen Test identifies specific genetic markers (antigens) at the HLA C locus, crucial for understanding immune system function and predisposition to certain diseases, particularly relevant for organ transplantation and autoimmune conditions.
Dnm2 Gene Centronuclear Myopathy Type 1 Genetic Test
Genetic test to identify mutations in the DNM2 gene associated with Centronuclear Myopathy Type 1, a condition causing muscle weakness. Utilizes Next-Generation Sequencing (NGS) technology.
AMT Gene Glycine Encephalopathy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AMT gene associated with glycine encephalopathy, a neurological disorder. Helps diagnose and manage the condition.
NEXMIF Gene Mental Retardation X-Linked Nonsyndromic Genetic Test
The NEXMIF Gene Mental Retardation X-Linked Nonsyndromic NGS Genetic DNA Test helps identify genetic mutations linked to X-linked nonsyndromic mental retardation using Next-Generation Sequencing (NGS) technology. This test is important for diagnosing potential neurological disorders and understanding developmental delays.
NR2E1 Gene Polymicrogyria Bilateral Occipital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the NR2E1 gene, associated with neurological conditions like polymicrogyria. Confirm with the laboratory before booking.
SEC23B Gene Anemia Dyserythropoietic Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SEC23B gene associated with anemia dyserythropoietic type 2. Helps diagnose specific genetic anemia conditions.
SLC16A1 Gene Hyperinsulinemic Hypoglycemia Type 7 Genetic Test
Genetic test for SLC16A1 gene mutations associated with hyperinsulinemic hypoglycemia (low blood sugar due to excess insulin). Helps diagnose and manage this metabolic disorder.
GJB6 Gene Deafness Autosomal Recessive Type 1B Genetic Test
Genetic test to identify mutations in the GJB6 gene associated with autosomal recessive hearing loss. Uses Next-Generation Sequencing (NGS) technology.
LAMA3 Gene Epidermolysis Bullosa Generalized Atrophic Benign Genetic Test
This genetic test identifies mutations in the LAMA3 gene associated with certain forms of epidermolysis bullosa (EB), a condition causing fragile, blistering skin. It helps understand genetic risk and guide management.
VDR Gene Rickets Vitamin D-Resistant Type 2A Genetic Test
This genetic test analyzes the VDR gene to identify mutations associated with Vitamin D-Resistant Rickets Type 2A, a condition affecting vitamin D metabolism and bone health. It helps diagnose specific genetic disorders related to vitamin D.
MCTP2 Gene Coarctation of the Aorta Genetic Test
Genetic test to identify mutations in the MCTP2 gene associated with coarctation of the aorta, a vascular condition. Helps in early diagnosis and personalized management.
WT1 Gene Wilms Tumor Type 1 Familial Genetic Test
The WT1 Gene Wilms Tumor Type 1 Familial NGS Genetic DNA Test assesses genetic predisposition to Wilms tumor using Next Generation Sequencing (NGS) technology. Genetic counseling is recommended before testing.
DHCR24 Gene Desmosterolosis Genetic Test
Genetic test to identify mutations in the DHCR24 gene associated with desmosterolosis, a rare genetic disorder. Utilizes Next Generation Sequencing (NGS) technology.
NFIX Gene Sotoslike Syndrome Genetic Test
The NFIX Gene Sotoslike Syndrome NGS Genetic DNA Test uses advanced sequencing technology to identify mutations in the NFIX gene, which are linked to Sotos-like syndrome. This test is important for individuals showing signs of overgrowth or developmental delays.
Cardiomyopathy Gene Panel
Genetic test to identify mutations linked to cardiomyopathy, a condition affecting the heart muscle. Useful for those with a family history or symptoms.
Preimplantation Genetic Screening PGS Per Embryo
Preimplantation Genetic Screening (PGS) per embryo screens embryos created through IVF for chromosomal abnormalities before implantation, increasing the chances of a healthy pregnancy.
Streptococcus Pneumonia RNA Detection Qualitative Test
Detects the presence of Streptococcus pneumoniae RNA, a common cause of pneumonia and other respiratory infections, using Real Time PCR technology.
LAMC1 Gene Dandy-Walker Malformation and Occipital Cephaloceles LAMC1 Related Genetic Test
Genetic test analyzing the LAMC1 gene to identify mutations associated with Dandy-Walker malformation and occipital cephaloceles. Helps in early diagnosis and management.
Wilson Disease ATP7B Gene Mutation Detection Test
Detects mutations in the ATP7B gene to diagnose Wilson's disease, a genetic disorder causing copper buildup. Early diagnosis is key for effective management.
BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test
This genetic test identifies mutations in the BIN1 gene associated with Centronuclear Myopathy Type 2, a rare neuromuscular disorder. It uses Next-Generation Sequencing (NGS) for accurate analysis.
SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test
This genetic test identifies mutations in the SLC35C1 gene, which can cause Glycosylation Disorder Type 2C, often linked to neurological symptoms. Confirm with the laboratory before booking.
PHF8 Gene Mental Retardation Xlinked Siderius Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PHF8 gene, associated with X-linked mental retardation and neurological disorders. Helps in diagnosis and understanding genetic risks.
VRK1 Gene Pontocerebellar Hypoplasia Type 1A Genetic Test
This genetic test identifies mutations in the VRK1 gene, which are associated with Pontocerebellar Hypoplasia Type 1A, a severe neurological disorder. It uses Next Generation Sequencing (NGS) technology.
PRF1 Gene Aplastic Anemia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PRF1 gene associated with aplastic anemia. Provides insights for diagnosis and treatment planning.
GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 Genetic Test
Genetic test for mutations in the GLUD1 gene, associated with Hyperinsulinemic Hypoglycemia Type 6, a metabolic disorder affecting insulin regulation. Helps diagnose the condition and inform management.
MYO7A Gene Deafness Autosomal Recessive Type 2 Genetic Test
This genetic test identifies mutations in the MYO7A gene, which are associated with autosomal recessive hearing loss. It uses Next-Generation Sequencing (NGS) technology for accurate results.
COL17A1 Gene Epidermolysis Bullosa Junctional Genetic Test
This genetic test identifies mutations in the COL17A1 gene, associated with Junctional Epidermolysis Bullosa, a condition causing fragile, blistering skin. It aids in diagnosis and management.
NOD2 Gene Sarcoidosis Early-Onset Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to identify mutations in the NOD2 gene associated with early-onset sarcoidosis. It can help in early diagnosis and management for individuals with a family history or symptoms.
PDCD10 Gene Cerebral Cavernous Malformations Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the PDCD10 gene, associated with Cerebral Cavernous Malformations (CCMs). Helps in diagnosis, treatment planning, and family risk assessment.
Sry Gene 46XX Sex Reversal Type 1 Genetic Test
This genetic test analyzes the Sry gene to help diagnose conditions related to sex development, such as 46,XX sex reversal type 1. It uses Next Generation Sequencing (NGS) technology.
TBX1 Gene DiGeorge Syndrome Genetic Test
Genetic test analyzing the TBX1 gene to help identify predispositions associated with DiGeorge Syndrome. Suitable for individuals with symptoms or family history.
MTRR Gene Spina Bifida Folate Sensitive Genetic Test
Genetic test analyzing the MTRR gene to identify potential risks related to folate metabolism and spina bifida. Useful for family planning and understanding genetic predispositions.
Prenatal Alpha Thalassemia Mutation Screening 3 Common Mutation
Prenatal screening for three common Alpha Thalassemia mutations to assess risk in the fetus. Helps expectant parents make informed decisions.
S. Pneumoniae, H. Influenzae, Chl. Pneumoniae, N. Meningitis RG Multiplex RNA Detection Qualitative Test
Detects common causes of severe respiratory infections and meningitis, including Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, and Neisseria meningitidis. This test helps guide appropriate treatment.
RET Gene Hirschsprung Disease Genetic Test
This genetic test identifies mutations in the RET gene associated with Hirschsprung disease, a condition affecting the colon. It helps in diagnosing and managing the condition, particularly in children.
WT1 Mutation Detection Test
The WT1 Mutation Detection Test identifies mutations in the WT1 gene, often linked to cancers like Wilms tumor. This test aids in diagnosis and treatment planning.
MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MTMR14 gene associated with Centronuclear Myopathy Type 1.
MGAT2 Gene Glycosylation Disorder Type 2A Genetic Test
Genetic test to identify mutations in the MGAT2 gene associated with Glycosylation Disorder Type 2A, a condition linked to neurological symptoms. Uses Next-Generation Sequencing (NGS).
SMS Gene Mental Retardation Xlinked SnyderRobinson Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SMS gene, associated with Snyder-Robinson syndrome and related neurological conditions.
GAA Gene Pompe Disease Genetic Test
Genetic test to detect mutations in the GAA gene associated with Pompe disease, a disorder affecting muscle function. Utilizes Next-Generation Sequencing (NGS) technology for comprehensive DNA analysis.
Serpina1 Gene Antitrypsin Alpha-1 Deficiency Genetic Test
Genetic test to identify mutations in the SERPINA1 gene associated with Alpha-1 Antitrypsin Deficiency (AATD), a condition that can affect the lungs and liver.
UCP2 Gene Hyperinsulinism UCP2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the UCP2 gene associated with hyperinsulinism. Helps diagnose metabolic disorders and understand insulin regulation.
Otoa Gene Deafness Autosomal Recessive Type 22 Genetic Test
Genetic test to identify mutations in the Otoa gene associated with autosomal recessive deafness, aiding in the diagnosis and management of hearing loss.
LAMC2 Gene Epidermolysis Bullosa Junctional Genetic Test
Genetic test analyzing the LAMC2 gene to identify mutations associated with Junctional Epidermolysis Bullosa, a condition causing fragile, blistering skin. Utilizes Next-Generation Sequencing (NGS) technology.
ZAP70 Gene Selective Tcell Defect Genetic Test
The ZAP70 Gene Selective Tcell Defect NGS Genetic DNA Test identifies mutations in the ZAP70 gene, crucial for T-cell function and immune response. This test helps diagnose specific immunodeficiencies.
ABCA1 Gene Coronary Artery Disease in Familial Hypercholesterolemia Protection Against Genetic Test
This genetic test analyzes the ABCA1 gene to assess predisposition to familial hypercholesterolemia and coronary artery disease risk. Understand your genetic risk factors for vascular diseases.
Infertility Panel Genetic Test
The Infertility Panel NGS Genetic DNA Test uses advanced sequencing technology to identify genetic factors that may contribute to infertility, aiding couples facing conception challenges.
Lrp2 Gene Donnai-Barrow Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the LRP2 gene, associated with Donnai-Barrow Syndrome. Helps in diagnosing this rare genetic condition.
DLX5 Gene Split-Hand/Foot Malformation Type 1 with Sensorineural Hearing Loss Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DLX5 gene associated with Split-Hand/Foot Malformation Type 1 and Sensorineural Hearing Loss. Helps in early diagnosis and management.
CBFB-MYH11[Inv(16)] Qualitative
The CBFB-MYH11[Inv(16)] Qualitative test detects a specific genetic mutation linked to certain blood disorders, like acute myeloid leukemia (AML). This test helps guide diagnosis and treatment.
Prenatal Diagnostic Screening by Karyotyping FISH for Any One 13 18 21 X and Y
This genetic test uses FISH technology to check for specific chromosomal abnormalities (13, 18, 21, X, Y) in an unborn baby. It helps expectant mothers understand the genetic health of their fetus.
Shrimp TSV YHV IMNV RNA Virus Multiplex Detection and Differentiation RNA Detection Qualitative Test
Detects Taura Syndrome Virus (TSV), Yellow Head Virus (YHV), and Infectious Myonecrosis Virus (IMNV) in shrimp using Real Time PCR. Essential for aquaculture health management.
ZEB2 Gene Hirschsprung Disease Genetic Test
Genetic test to identify mutations in the ZEB2 gene associated with Hirschsprung disease, aiding in early diagnosis and management. Confirm with the laboratory before booking.
MYF6 Gene Centronuclear Myopathy Type 3 Genetic Test
The MYF6 Gene Centronuclear Myopathy Type 3 Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the MYF6 gene associated with a rare neuromuscular disorder causing muscle weakness. This test aids in diagnosis and management.
ALG6 Gene Glycosylation Disorder Type 1C Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ALG6 gene, associated with Glycosylation Disorder Type 1C and neurological conditions. Recommended for individuals with relevant symptoms or family history.
OPHN1 Gene Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the OPHN1 gene, aiding in the diagnosis of conditions associated with intellectual disability, cerebellar hypoplasia, and distinctive facial features.
EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test
This genetic test identifies mutations in the EXOSC3 gene, associated with Pontocerebellar Hypoplasia Type 1B, a rare neurological disorder. It uses Next-Generation Sequencing (NGS) for accurate results.
SBDS Gene Aplastic Anemia SBDS Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SBDS gene associated with aplastic anemia. Helps understand genetic risk and guide treatment.
USF1 Gene Hyperlipidemia Familial Combined Susceptibility to Genetic Test
Genetic test to identify predisposition to familial combined hyperlipidemia by analyzing the USF1 gene. Helps individuals with a family history of metabolic disorders understand their risk.
PCDH15 Gene Deafness Autosomal Recessive Type 23 Genetic Test
Genetic test to identify mutations in the PCDH15 gene associated with autosomal recessive deafness. Helps diagnose the cause of hearing loss.
LAMA3 Gene Epidermolysis Bullosa Junctional Herlitz Type Genetic Test
Genetic test to identify mutations in the LAMA3 gene associated with Junctional Epidermolysis Bullosa, Herlitz type. Recommended for individuals with symptoms or family history of this condition.
IL2 Gene Severe Combined Immunodeficiency Due to IL2 Deficiency Genetic Test
Genetic test to identify mutations in the IL2 gene associated with Severe Combined Immunodeficiency (SCID). Early diagnosis is key for managing this serious immune disorder.
ITGA2 Gene Glycoprotein Ia C807T Polymorphism Genetic Test
Genetic test to identify variations in the ITGA2 gene, which may influence the risk of developing vascular diseases. Uses Next Generation Sequencing (NGS) technology.
AKR1C4 Gene 46XY Sex Reversal Type 8 Modifier of Genetic Test
This genetic test identifies mutations in the AKR1C4 gene, which can be associated with reproductive disorders and sex development issues. It uses Next Generation Sequencing (NGS) technology.
TBC1D24 Gene DOOR Syndrome Genetic Test
Genetic test to identify mutations in the TBC1D24 gene associated with DOOR syndrome. Aids in early diagnosis and management for individuals with relevant symptoms or family history.
WNT10B Gene Split-Hand/Foot Malformation Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the WNT10B gene, identifying mutations associated with split-hand/foot malformation type 6. Helps in diagnosis and family planning.
CEBPA Full Gene Mutation Analysis
The CEBPA Full Gene Mutation Analysis identifies mutations in the CEBPA gene, which can be linked to certain health conditions, particularly blood disorders like acute myeloid leukemia (AML). This test helps in understanding genetic risks and informing treatment decisions.
Products of Conception POC for Karyotyping
The Products of Conception (POC) for Karyotyping test analyzes placental tissue to detect chromosomal abnormalities, providing insights into potential genetic conditions related to pregnancy loss or family history.
Shrimp WSSV MBV HPV IHHNV DNA Virus Multiplex Detection and Differentiation RNA Detection Qualitative Test
This test detects multiple viruses (WSSV, MBV, HPV, IHHNV) in shrimp using Real Time PCR technology. It helps shrimp farmers identify infections early to manage stocks and prevent outbreaks.
PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 Genetic Test
Genetic test to identify mutations in the PGAP3 gene associated with Hyperphosphatasia with Mental Retardation Syndrome Type 4. Utilizes Next Generation Sequencing (NGS) technology.
Mycobacterium Tuberculosis rRNA Detection TMA Test
Detects Mycobacterium tuberculosis rRNA using advanced TMA technology for rapid and sensitive tuberculosis diagnosis. Essential for symptomatic individuals or those at high risk.
Rubella Detection PCR Test
Detect the Rubella virus with our PCR test. Essential for pregnant women and those with potential exposure to prevent congenital rubella syndrome. Confirm details before booking.
CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CCDC78 gene, associated with Centronuclear Myopathy Type 4, a rare neuromuscular disorder.
DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DPAGT1 gene, associated with Glycosylation Disorder Type 1J and neurological conditions. Confirm with the laboratory before booking.
Sox3 Gene Mental Retardation X-Linked with Isolated Growth Hormone Deficiency Genetic Test
This genetic test analyzes the Sox3 gene to help diagnose conditions associated with neurological disorders, including mental retardation and isolated growth hormone deficiency. It uses Next Generation Sequencing (NGS) technology.
TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TSEN54 gene, associated with Pontocerebellar Hypoplasia Type 2A, a neurological disorder. Helps in diagnosis and management.
ApoA2 Gene Apolipoprotein AII Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the APOA2 gene, which can be associated with metabolic disorders. Helps individuals understand potential risks, especially with a family history.
LPL Gene Hyperlipoproteinemia Type 1 Genetic Test
This genetic test analyzes the LPL gene to identify mutations associated with Hyperlipoproteinemia Type 1, a condition causing high lipid levels. It uses Next-Generation Sequencing (NGS) technology.
RDX Gene Deafness Autosomal Recessive Type 24 Genetic Test
Genetic test to identify mutations in the RDX gene associated with autosomal recessive deafness. Helps understand hereditary hearing loss.
LAMB3 Gene Epidermolysis Bullosa Junctional Herlitz Type Genetic Test
Genetic test to identify mutations in the LAMB3 gene, associated with a severe form of Epidermolysis Bullosa (Junctional Herlitz Type). Helps confirm diagnosis and guide management.
ADA Gene Severe Combined Immunodeficiency Due to ADA Deficiency Genetic Test
This genetic test identifies mutations in the ADA gene, which can cause Severe Combined Immunodeficiency (SCID). Early diagnosis is crucial for managing this serious immune system disorder.
F7 Gene Factor VII Deficiency Genetic Test
The F7 Gene Factor VII Deficiency NGS Genetic DNA Test identifies genetic mutations linked to Factor VII deficiency, a condition affecting blood clotting. This test helps assess risks for bleeding disorders and vascular diseases, particularly for those with a family history.
AZF Region Gene Azoospermia Induced by Y Chromosome Microdeletions Genetic Test
This genetic test identifies specific Y chromosome microdeletions associated with azoospermia (absence of sperm), helping to understand causes of male infertility.
HMG20B Gene Dysmorphism HMG20B Related Genetic Test
The HMG20B Gene Dysmorphism test identifies genetic variations in the HMG20B gene associated with dysmorphology. This Next Generation Sequencing (NGS) test helps understand hereditary conditions and informs health decisions.
NKX32 Gene Spondylomegaepiphysealmetaphyseal Dysplasia Genetic Test
Genetic test to identify mutations in the NKX3-2 gene associated with Spondylomegaepiphysealmetaphyseal Dysplasia, a type of skeletal dysplasia. Helps in diagnosing and managing related physical abnormalities.
QF PCR Panel
The QF PCR Panel is a genetic test used for prenatal screening to detect common chromosomal abnormalities in a fetus, such as Down syndrome (Trisomy 21), Trisomy 18, and Trisomy 13. This test helps expectant parents make informed decisions.
Strachybotrys Quantitation Test
This test measures the amount of Strachybotrys mold in tissue, blood, or respiratory samples. It helps identify potential mold exposure, which can be linked to respiratory and other health issues.
WNT5A Gene Robinow Syndrome Autosomal Dominant Type 1 Genetic Test
Genetic test to detect mutations in the WNT5A gene, associated with Robinow syndrome. Helps in diagnosis and family planning.
Mycobacterium Tuberculosis PCR Mycosure TB PCR Test
Detects Mycobacterium tuberculosis DNA using Real-Time PCR. Includes drug sensitivity testing for Rifampicin, Isoniazid, Ethambutol, and Pyrazinamide. Recommended for individuals with TB symptoms or high-risk exposure.
SPEG Gene Centronuclear Myopathy Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SPEG gene, associated with Centronuclear Myopathy Type 5, a rare neuromuscular disorder.
DPM1 Gene Glycosylation Disorder Type 1E Genetic Test
Genetic test for DPM1 gene mutations associated with Glycosylation Disorder Type 1E, a condition linked to neurological symptoms. Uses Next Generation Sequencing (NGS).
MTTK Gene MERRF Syndrome MTTK Related Genetic Test
Genetic test to identify mutations in the MTTK gene associated with MERRF syndrome, a mitochondrial disorder affecting the nervous system and muscles. Helps diagnose neurological conditions.
TSEN2 Gene Pontocerebellar Hypoplasia Type 2B Genetic Test
The TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Genetic DNA Test helps identify mutations in the TSEN2 gene associated with a rare neurological disorder. This test uses Next-Generation Sequencing (NGS) technology.
APOC2 Gene Apolipoprotein CII Deficiency Genetic Test
Genetic test to identify mutations in the APOC2 gene, associated with Apolipoprotein C-II deficiency and lipid metabolism disorders. Helps assess risk and inform management.
SLC30A10 Gene Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Genetic Test
Genetic test for SLC30A10 gene mutations associated with hypermanganesemia, dystonia, polycythemia, and cirrhosis. Helps diagnose metabolic disorders related to manganese accumulation.
GRXCR1 Gene Deafness Autosomal Recessive Type 25 Genetic Test
Genetic test to identify mutations in the GRXCR1 gene associated with autosomal recessive deafness. Utilizes Next-Generation Sequencing (NGS) for accurate results. Suitable for individuals with a family history of hearing loss or related symptoms.
DSP Gene Epidermolysis Bullosa Lethal Acantholytic Genetic Test
Genetic test to identify mutations in the DSP gene associated with Epidermolysis Bullosa, a severe skin disorder. Uses Next Generation Sequencing (NGS) for accurate diagnosis.
NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the NHEJ1 gene for mutations associated with severe combined immunodeficiency (SCID), microcephaly, growth retardation, and sensitivity to ionizing radiation.
JAM3 Gene Hemorrhagic Destruction of the Brain Subependymal Calcification and Cataracts Genetic Test
This genetic test identifies mutations in the JAM3 gene associated with specific vascular conditions, including brain hemorrhages, subependymal calcification, and cataracts. It uses Next Generation Sequencing (NGS) technology.
CYP19A1 Gene Aromatase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CYP19A1 gene, associated with aromatase deficiency and related reproductive disorders. Confirm with the laboratory before booking.
TP63 Gene Ectodactyly Ectodermal Dysplasia and Cleft Lip/Palate Syndrome Type 3 Genetic Test
This genetic test analyzes the TP63 gene to identify mutations associated with ectodactyly, ectodermal dysplasia, and cleft lip/palate syndromes. It helps in diagnosing these conditions and understanding genetic risks.
TBX6 Gene Spondylocostal Dysostosis Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the TBX6 gene, associated with Spondylocostal Dysostosis Type 5, a rare skeletal disorder.
QF PCR Any One Marker Karyotyping
The QF PCR Any One Marker Karyotyping test helps identify specific chromosomal abnormalities, often used during pregnancy for genetic assessment. Confirm with the laboratory before booking.
Strachybotrys RNA Detection Qualitative Test
Detects the presence of Strachybotrys RNA in samples like tissue or respiratory secretions to help diagnose infections caused by this fungus.
CDK5RAP2 Gene Microcephaly Autosomal Recessive Type 3 Genetic Test
Genetic test to identify mutations in the CDK5RAP2 gene, associated with Autosomal Recessive Microcephaly Type 3. Helps in diagnosing the genetic cause of microcephaly.
Sanger Sequencing Single Variant Test
The Sanger Sequencing Single Variant Test identifies specific genetic variations linked to hereditary conditions. This accurate test helps in diagnosing genetic disorders and guiding treatment.
CP Gene Cerebellar Ataxia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CP gene associated with cerebellar ataxia, a neurological disorder affecting muscle control. Helps in diagnosis, treatment planning, and family counseling.
DOLK Gene Glycosylation Disorder Type 1M Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DOLK gene, associated with Glycosylation Disorder Type 1M and neurological conditions. Confirm with the laboratory before booking.
MTTP Gene MERRF Syndrome MTTP Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MTTP gene associated with MERRF syndrome, a rare neurological disorder. Helps in diagnosis, treatment guidance, and family planning.
Sepsecs Gene Pontocerebellar Hypoplasia Type 2D Genetic Test
This genetic test identifies mutations in the SEPSECS gene, associated with Pontocerebellar Hypoplasia Type 2D, a neurological disorder affecting brain development. It aids in early diagnosis and informed care decisions.
HSD11B2 Gene Apparent Mineralocorticoid Excess Genetic Test
Genetic test for the HSD11B2 gene to help diagnose conditions like apparent mineralocorticoid excess, which can cause high blood pressure and electrolyte imbalances. Uses Next Generation Sequencing (NGS) technology.
AASS Gene Hyperlysinemia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AASS gene associated with Hyperlysinemia type 1, a rare metabolic disorder. Aids in diagnosis and management.
TRIOBP Gene Deafness Autosomal Recessive Type 28 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TRIOBP gene associated with autosomal recessive deafness. Helps understand genetic causes of hearing loss.
LAMB3 Gene Epidermolysis Bullosa Junctional Non-Herlitz Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the LAMB3 gene associated with Junctional Non-Herlitz Epidermolysis Bullosa (EB).
RAG1 Gene Severe Combined Immunodeficiency B Cell-Negative Genetic Test
Genetic test to identify mutations in the RAG1 gene, associated with severe combined immunodeficiency (SCID), a condition affecting the immune system. Confirm with the laboratory before booking.
MTHFR Gene Homocystinuria Genetic Test
The MTHFR Gene Homocystinuria NGS Genetic DNA Test identifies genetic variations in the MTHFR gene linked to elevated homocysteine levels and potential vascular disease risk. Utilizes Next-Generation Sequencing (NGS) technology.
CFTR Gene Congenital Bilateral Absence of Vas Deferens Genetic Test
Genetic test to identify mutations in the CFTR gene associated with Congenital Bilateral Absence of the Vas Deferens (CBAVD), a cause of male infertility. Helps with diagnosis and family planning.
EVC Gene Ellis-van Creveld Syndrome Genetic Test
Genetic test to identify mutations in the EVC gene associated with Ellis-van Creveld syndrome, a rare condition affecting bone growth and other body systems.
COL2A1 Gene Spondyloperipheral Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the COL2A1 gene, identifying mutations associated with spondyloperipheral dysplasia, a condition affecting bone and cartilage development. Useful for diagnosis and family planning.
Chromosome Breakage Syndrome
The Chromosome Breakage Syndrome test helps identify genetic disorders linked to chromosomal instability. It's recommended for individuals with a family history of genetic conditions or unexplained health issues.
QF PCR Any One Marker
The QF PCR Any One Marker test is a genetic test used to detect specific genetic abnormalities in prenatal samples, aiding in early diagnosis and management.
TNF Quantitative Test
The TNF Quantitative Test measures Tumor Necrosis Factor (TNF) levels in your blood or cerebrospinal fluid. This test helps assess inflammation and immune response, often used in the context of suspected viral infections.
TWIST1 Gene SaethreChotzen Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TWIST1 gene for mutations associated with Saethre-Chotzen syndrome. Helps confirm diagnosis and inform family planning.
HLA DR2 DRB102 Test
The HLA DR2 DRB102 Test identifies specific genetic markers linked to autoimmune disease risk, aiding in understanding immune response and potential predispositions.
CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CA8 gene associated with Cerebellar Ataxia and Mental Retardation.
B4GALT1 Gene Glycosylation Disorder Type 2D Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the B4GALT1 gene, associated with Glycosylation Disorder Type 2D and neurological conditions. Confirm with the laboratory before booking.
MTTS1 Gene MERRF/MELAS Overlap Syndrome MTTS1 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MTTS1 gene associated with MERRF/MELAS overlap syndrome and related neurological disorders.
TSEN34 Gene Pontocerebellar Hypoplasia Type 2C Genetic Test
Genetic test to identify mutations in the TSEN34 gene associated with Pontocerebellar Hypoplasia Type 2C, a neurological disorder. Helps in diagnosis and understanding the condition.
ARG1 Gene Arginase Deficiency Genetic Test
The ARG1 Gene Arginase Deficiency NGS Genetic DNA Test identifies mutations in the ARG1 gene, helping diagnose Arginase deficiency, a rare metabolic disorder. Early detection allows for timely management.
ADK Gene Hypermethioninemia Due To Adenosine Kinase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ADK gene associated with hypermethioninemia, a metabolic disorder. Helps in diagnosing and managing this condition.
CLDN14 Gene Deafness Autosomal Recessive Type 29 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the CLDN14 gene associated with autosomal recessive hearing loss. Helps understand the genetic basis of hearing impairment.
EXPH5 Gene Epidermolysis Bullosa Nonspecific Autosomal Recessive Genetic Test
This genetic test identifies mutations in the EXPH5 gene associated with epidermolysis bullosa, a condition causing fragile, blistering skin. It uses Next Generation Sequencing (NGS) for accurate results.
DCLRE1C Gene Severe Combined Immunodeficiency Athabascan Type Genetic Test
Genetic test to identify mutations in the DCLRE1C gene associated with Severe Combined Immunodeficiency (SCID), Athabascan type. Helps diagnose SCID, especially in individuals with relevant symptoms or family history.
CBS Gene Homocystinuria Due To Cystathionine Betasynthase Deficiency Genetic Test
Genetic test to identify mutations in the CBS gene associated with homocystinuria, a condition linked to vascular diseases. Early detection aids management.
STRC Gene Deafness and Male Infertility Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the STRC gene associated with non-syndromic hearing loss and male infertility. Helps inform family planning and treatment options.
EVC2 Gene Ellisvan Creveld Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the EVC2 gene, associated with Ellis-van Creveld syndrome. Helps diagnose this condition affecting bone and tooth development.
Hoxd13 Gene Syndactyly Type 1 Genetic Test
Genetic test to detect mutations in the HOXD13 gene associated with syndactyly type 1, aiding in diagnosis and management.
Chromosome 21
The Chromosome 21 test helps detect genetic abnormalities related to chromosome 21, including Down syndrome. This test is important for expecting parents and individuals with risk factors. Confirm with the laboratory before booking.
QF PCR Panel 131821XY Karyotyping
The QF PCR Panel 131821XY Karyotyping test analyzes chromosomes for abnormalities, often used during pregnancy. It helps identify potential genetic conditions early.
SOST Gene Sclerosteosis Type 1 Genetic Test
This genetic test identifies mutations in the SOST gene, associated with sclerosteosis, a rare condition causing abnormal bone growth. It helps in early diagnosis and management.
FISH Prader Willi Syndrome SNRPN Test
The FISH Prader Willi Syndrome SNRPN Test is a genetic test used to help diagnose Prader-Willi syndrome (PWS), a condition associated with specific genetic changes on chromosome 15. Early diagnosis is important for management.
HLA DR3 DRB103 Test
The HLA DR3 DRB103 Test identifies genetic markers associated with an increased risk of certain autoimmune diseases, helping understand your immune system's potential responses.
DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy Autosomal Recessive Genetic Test
Genetic test to identify mutations in the DNMT1 gene associated with cerebellar ataxia, deafness, and narcolepsy. Helps diagnose rare neurological disorders.
COG7 Gene Glycosylation Disorder Type 2E Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the COG7 gene for mutations associated with Glycosylation Disorder Type 2E, a rare neurological condition. Helps diagnose neurological disorders.
MTTS2 Gene MERRFMELAS Overlap Syndrome MTTS2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MTTS2 gene, associated with MERRF and MELAS syndromes. Helps identify genetic predispositions to specific neurological disorders.
VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the VPS53 gene, associated with Pontocerebellar Hypoplasia Type 2E. Helps diagnose specific neurological disorders.
GATM Gene Arginineglycine Amidinotransferase Deficiency Genetic Test
The GATM Gene Arginineglycine Amidinotransferase Deficiency NGS Genetic DNA Test identifies genetic mutations linked to metabolic disorders. This test uses Next Generation Sequencing (NGS) to detect changes in the GATM gene, aiding in diagnosis and management.
SLC25A15 Gene Hyperornithinemia Hyperammonemia Homocitrullinuria Syndrome Genetic Test
Genetic test to identify mutations in the SLC25A15 gene associated with Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome. Helps diagnose metabolic disorders and guide management.
Myo15A Gene Deafness Autosomal Recessive Type 3 Genetic Test
Genetic test to identify mutations in the MYO15A gene associated with autosomal recessive deafness. Useful for individuals with a family history of hearing loss.
KRT1 Gene Epidermolytic Hyperkeratosis Genetic Test
Genetic test to identify mutations in the KRT1 gene associated with epidermolytic hyperkeratosis, a skin disorder. Helps in diagnosis and management.
PTPRC Gene Severe Combined Immunodeficiency T Cell-Negative B Cell/Natural Killer Cell Positive Genetic Test
Genetic test to identify mutations in the PTPRC gene associated with a specific type of Severe Combined Immunodeficiency (SCID).
NR3C2 Gene Hypertension Early Onset Genetic Test
Genetic test to identify predisposition to early-onset hypertension by analyzing the NR3C2 gene using next-generation sequencing.
FOXF2 Gene Disorders of Sex Development with Cleft Palate Genetic Test
Genetic test analyzing the FOXF2 gene for mutations linked to disorders of sex development and cleft palate, using Next-Generation Sequencing (NGS).
COL2A1 Gene Epiphyseal Dysplasia Multiple with Myopia and Deafness Genetic Test
This genetic test analyzes the COL2A1 gene to help diagnose conditions like epiphyseal dysplasia, myopia, and deafness. It uses Next Generation Sequencing (NGS) technology.
LIFR Gene Stuve-Wiedemann Syndrome Genetic Test
Genetic test for Stuve-Wiedemann syndrome, analyzing the LIFR gene using Next-Generation Sequencing (NGS) to identify mutations associated with this rare skeletal dysplasia condition.
Chromosomes 13 18 21 X Y
Detects chromosomal abnormalities in chromosomes 13, 18, 21, X, and Y, which can indicate genetic disorders like Down syndrome, Turner syndrome, or Klinefelter syndrome.
Quadrupal Marker
The Quadrupal Marker test is a genetic screening performed during pregnancy to assess the risk of certain chromosomal abnormalities, such as Down syndrome. It measures four specific substances in the mother's blood.
TNF RNA Detection Qualitative Test
Detects the presence of viral RNA using Real Time PCR technology. This test helps diagnose viral infections and guide treatment.
HLA DR5 DRB11112 Test
The HLA DR5 DRB11112 Test identifies a specific genetic marker linked to certain diseases, aiding in the diagnosis and management of conditions with a genetic component. Discuss with your doctor if this test is right for you.
WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the WDR81 gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 2. Helps diagnose specific neurological disorders.
SLC35A1 Gene Glycosylation Disorder Type 2F Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLC35A1 gene, associated with specific neurological disorders. Helps in diagnosis and management.
PSAP Gene Metachromatic Leukodystrophy Due to Saposin B Deficiency Genetic Test
Genetic test to identify mutations in the PSAP gene associated with Metachromatic Leukodystrophy (MLD), a rare neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test
Genetic test to identify mutations in the TSEN54 gene associated with Pontocerebellar Hypoplasia type 4, a neurological disorder. Helps understand genetic risks and inform care.
Ddc Gene Aromatic L-Amino Acid Decarboxylase Deficiency Aadc Genetic Test
Genetic test for Aromatic L-Amino Acid Decarboxylase Deficiency (AADC), a rare metabolic disorder. Uses Next Generation Sequencing (NGS) to analyze the DDC gene. Helps in diagnosis and management.
AGXT Gene Hyperoxaluria Type 1 Genetic Test
The AGXT Gene Hyperoxaluria Type 1 NGS Genetic DNA Test identifies genetic mutations linked to hyperoxaluria, a metabolic disorder potentially causing kidney stones and renal issues. This test helps in early diagnosis and management.
Myo3A Gene Deafness Autosomal Recessive Type 30 Genetic Test
This genetic test analyzes the Myo3A gene to identify mutations associated with autosomal recessive deafness type 30, aiding in the diagnosis of hereditary hearing loss.
KRT10 Gene Epidermolytic Hyperkeratosis Genetic Test
Genetic test to identify mutations in the KRT10 gene associated with epidermolytic hyperkeratosis, a skin condition causing thickened skin and blisters. Helps in diagnosis and management.
IL7R Gene Severe Combined Immunodeficiency T-Cell Negative B-Cell/Natural Killer Cell-Positive Type Genetic Test
This genetic test identifies mutations in the IL7R gene associated with a specific type of Severe Combined Immunodeficiency (SCID), a serious immune system disorder. Early diagnosis is key for effective management.
MTRR Gene Homocystinuria-Megaloblastic Anemia Cbl E Type Genetic Test
Genetic test for mutations in the MTRR gene, associated with homocystinuria and megaloblastic anemia. Helps identify predispositions for early management.
FSHB Gene Folliclestimulating Hormone Deficiency Isolated Genetic Test
This genetic test identifies mutations in the FSHB gene, which can cause follicle-stimulating hormone deficiency and related reproductive disorders. It uses advanced Next Generation Sequencing (NGS) technology.
FGD1 Gene Faciogenital Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FGD1 gene associated with facio-genital dysplasia. Helps assess risk and inform management.
BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction Genetic Test
Genetic test using NGS technology to analyze the BHLHA9 gene for mutations associated with syndactyly (fused fingers or toes) and related limb formation abnormalities. Helps in diagnosis and understanding inheritance patterns.
Chromosomes 13 & 21
Genetic analysis to detect chromosomal abnormalities related to chromosomes 13 and 21, important for prenatal screening and understanding potential health risks.
Torch Multiplex Detection and Differentiation RNA Detection Qualitative Test
The Torch Multiplex Test detects viral infections that can affect pregnancy and fetal health using Real-Time PCR technology. Recommended for pregnant women or those planning pregnancy, especially if experiencing symptoms or with risk factors.
XRCC3 Gene Melanoma Cutaneous Malignant Familial Type 6 Susceptibility to Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the XRCC3 gene associated with an increased risk of developing cutaneous malignant melanoma. Suitable for individuals with a family history of skin cancer.
HLA DR4 DRB104 Test
The HLA DR4 DRB104 Test identifies specific genetic markers linked to autoimmune diseases like rheumatoid arthritis. This genetic test can help in early diagnosis and management.
GBA2 Gene Cerebellar Ataxia with Spasticity Genetic Test
Genetic test to identify mutations in the GBA2 gene associated with cerebellar ataxia and spasticity, using Next-Generation Sequencing (NGS).
COG1 Gene Glycosylation Disorder Type 2G Genetic Test
Genetic test for COG1 gene mutations associated with Glycosylation Disorder Type 2G, often linked to neurological symptoms. Uses Next Generation Sequencing (NGS).
MAT1A Gene Methionine Adenosyltransferase Deficiency Autosomal Recessive Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MAT1A gene, associated with methionine adenosyltransferase deficiency and neurological disorders.
TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TSEN54 gene, associated with Pontocerebellar Hypoplasia Type 5, a rare neurological disorder. Aids in diagnosis and family planning.
ASL Gene Argininosuccinic Aciduria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ASL gene associated with argininosuccinic aciduria, a rare metabolic disorder. A Genetic Counseling session is recommended before testing.
GRHPR Gene Hyperoxaluria Type 2 Genetic Test
This genetic test identifies mutations in the GRHPR gene associated with Hyperoxaluria type 2, a rare metabolic disorder that can cause kidney stones and renal failure. It uses Next Generation Sequencing (NGS) technology.
WHRN Gene Deafness Autosomal Recessive Type 31 Genetic Test
This genetic test identifies mutations in the WHRN gene, a cause of autosomal recessive hearing loss. It uses Next Generation Sequencing (NGS) technology for accurate diagnosis, aiding in understanding hearing impairment and family planning.
COMP Gene Epiphyseal Dysplasia Multiple Type 1 Genetic Test
Genetic test to identify mutations in the COMP gene associated with bone and cartilage disorders like epiphyseal dysplasia. Helps in diagnosis and management.
DSP Gene Skin Fragility-Woolly Hair Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DSP gene associated with skin fragility and woolly hair syndrome. Helps diagnose and manage related conditions.
ADD2 Gene Hypertension ADD2 Related Genetic Test
The ADD2 Gene Hypertension Genetic Test uses Next-Generation Sequencing (NGS) to identify genetic variations in the ADD2 gene associated with hypertension risk. This test helps understand individual predisposition to high blood pressure.
HOXA13 Gene Guttmacher Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the HOXA13 gene, aiding in the diagnosis of Guttmacher syndrome and related reproductive disorders. Confirm with the laboratory before booking.
MYCN Gene Feingold Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MYCN gene associated with Feingold syndrome. Helps in diagnosis and management.
Hoxd13 Gene Syndactyly Type 5 Genetic Test
This genetic test analyzes the HOXD13 gene to identify mutations associated with syndactyly type 5, a condition causing fused fingers or toes. It uses Next Generation Sequencing (NGS) for accurate results.
Chromosomes 18 X Y
The Chromosomes 18 X Y test identifies specific chromosomal abnormalities related to chromosomes 18, X, and Y, aiding in the diagnosis and management of potential genetic conditions.
TTV Viral Load Quantitative Test
Measures the amount of Torque Teno Virus (TTV) in your body using a sensitive PCR method. Helps monitor viral infections, especially in individuals with weakened immune systems.
HLA DR7 DRB107 Test
The HLA DR7 DRB107 Test helps identify genetic predispositions to certain autoimmune diseases. It looks for specific HLA types linked to increased risk.
CAMTA1 Gene Cerebellar Ataxia Nonprogressive with Mental Retardation Genetic Test
Genetic test to identify mutations in the CAMTA1 gene associated with nonprogressive cerebellar ataxia and intellectual disabilities, using Next-Generation Sequencing (NGS).
COG8 Gene Glycosylation Disorder Type 2H Genetic Test
Genetic test analyzing the COG8 gene to help diagnose Glycosylation Disorder Type 2H, a rare condition often linked to neurological issues. Utilizes Next-Generation Sequencing (NGS).
STAMBP Gene Microcephaly-Capillary Malformation Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the STAMBP gene, associated with microcephaly and capillary malformations. Aids in diagnosing neurological disorders.
RARS2 Gene Pontocerebellar Hypoplasia Type 6 Genetic Test
The RARS2 Gene Pontocerebellar Hypoplasia Type 6 NGS Genetic DNA Test identifies genetic variations in the RARS2 gene associated with neurological disorders. This test uses Next Generation Sequencing (NGS) technology to analyze the gene, aiding in the diagnosis of conditions like pontocerebellar hypoplasia type 6.
ASNS Gene Asparaginesynthetase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ASNS gene associated with asparaginesynthetase deficiency, a metabolic disorder. Helps diagnose and manage related health conditions.
HOGA1 Gene Hyperoxaluria Type 3 Genetic Test
Genetic test to identify mutations in the HOGA1 gene, associated with Hyperoxaluria Type 3, a metabolic disorder causing excess oxalate and potential kidney stones.
ESPN Gene Deafness Autosomal Recessive Type 36 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GJB2 gene associated with autosomal recessive deafness. Helps diagnose genetic causes of hearing loss.
KRT9 Gene Epidermolytic Palmoplantar Keratoderma Genetic Test
Genetic test for Epidermolytic Palmoplantar Keratoderma, analyzing the KRT9 gene using Next-Generation Sequencing (NGS) technology. Helps diagnose this skin condition characterized by thickened skin on palms and soles.
DYM Gene Smith-McCort Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DYM gene associated with Smith-McCort dysplasia. Helps in early diagnosis and management for individuals with a family history or symptoms.
CYP3A5 Gene Hypertension Salt-Sensitive Essential Susceptibility to Genetic Test
Understand your genetic predisposition to salt-sensitive hypertension with the CYP3A5 Gene Hypertension test. This genetic DNA test uses Next-Generation Sequencing (NGS) to analyze your CYP3A5 gene, providing insights for personalized health management.
HOXA13 Gene Hand-Foot-Uterus Syndrome Genetic Test
Genetic test to identify mutations in the HOXA13 gene associated with Hand-Foot-Uterus Syndrome and related reproductive disorders. Uses Next Generation Sequencing (NGS) technology.
DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the DOK7 gene associated with fetal akinesia deformation sequence. Recommended for at-risk pregnancies.
TANC2 Gene TANC2 Related Brain Disorders Genetic Test
This genetic test analyzes the TANC2 gene using Next Generation Sequencing (NGS) to identify mutations associated with certain brain disorders. It aids in diagnosing and managing genetic conditions.
Chronic Neutrophilic Leukemia CNLCSF3R Gene Exon 14 17 SETBP Gene Exon 4
This genetic test analyzes specific mutations in the CSF3R and SETBP genes, aiding in the diagnosis and understanding of Chronic Neutrophilic Leukemia (CNL).
TTV RNA Detection Qualitative Test
The TTV RNA Detection Qualitative Test detects the presence of Torque Teno Virus (TTV) RNA. This test is useful for individuals with symptoms or risk factors for TTV infection.
SARS-CoV-2 COVID-19 Qualitative Real Time RT PCR Test
Detects the presence of the SARS-CoV-2 virus, the cause of COVID-19, using a highly sensitive and specific PCR test. Provides timely results for diagnosis and management.
ATP8A2 Gene Cerebellar Ataxia Mental Retardation and Dysequilibrium Syndrome Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ATP8A2 gene for mutations associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4. Aids in diagnosing neurological disorders.
GLB1 Gene GM1gangliosidosis Genetic Test
The GLB1 Gene GM1 gangliosidosis genetic test identifies mutations in the GLB1 gene associated with GM1 gangliosidosis, a rare neurological disorder. This test uses Next-Generation Sequencing (NGS) technology to analyze DNA for specific genetic changes.
DCC Gene Mirror Movements Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DCC gene for mutations associated with neurological disorders. Recommended for individuals with relevant symptoms or family history.
CHMP1A Gene Pontocerebellar Hypoplasia Type 8 Genetic Test
Genetic test to identify mutations in the CHMP1A gene associated with Pontocerebellar Hypoplasia Type 8, a neurological disorder. Helps in diagnosis and management.
AGA Gene Aspartylglucosaminuria Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the AGA gene, aiding in the diagnosis of aspartylglucosaminuria, a metabolic disorder. Confirm with the laboratory before booking.
SLC26A6 Gene Hyperoxaluria SLC26A6 Related Genetic Test
This genetic test analyzes the SLC26A6 gene to identify mutations associated with hyperoxaluria, a metabolic disorder that can cause kidney stones. It helps assess risk and inform management.
ESRRB Gene Deafness Autosomal Recessive Type 35 Genetic Test
Genetic test to identify mutations in the ESRRB gene associated with autosomal recessive deafness. Helps understand hereditary hearing loss.
COL9A3 Gene Epiphyseal Dysplasia Multiple Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the COL9A3 gene for mutations associated with Epiphyseal Dysplasia Multiple Type 3, a condition affecting bone and cartilage development.
SLC24A4 Gene Skin Hair Eye Pigmentation Type 6 Genetic Test
Genetic test analyzing the SLC24A4 gene to understand variations related to skin, hair, and eye pigmentation. Useful for individuals with unusual pigmentation or a family history of pigmentation disorders.
NOS2 Gene Hypertension Susceptibility to Genetic Test
Understand your genetic risk for hypertension with the NOS2 Gene Hypertension Susceptibility test. This genetic DNA test analyzes the NOS2 gene to provide insights into your predisposition to high blood pressure.
NLRP7 Gene Hydatidiform Mole Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NLRP7 gene associated with hydatidiform moles, aiding in reproductive health assessment and family planning.
RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test
Genetic test analyzing the RAPSN gene to identify mutations associated with Fetal Akinesia Deformation Sequence. Provides insights for families and guides clinical decisions.
Maternal UPD Chr 14 Gene Temple Syndrome Genetic Test
This genetic test identifies maternal uniparental disomy (UPD) on chromosome 14, which can be associated with Temple syndrome. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
Retinal Degeneration Gene Panel
The Retinal Degeneration Gene Panel identifies genetic mutations linked to retinal diseases, aiding in early diagnosis and management to potentially preserve vision. Suitable for those with family history or unexplained vision changes.
Treponema Palladium Syphilis Bacterial Load Test
This test measures the amount of Treponema pallidum bacteria in your body, aiding in the diagnosis and management of syphilis. It uses a highly accurate Real Time PCR method.
HLA Narcolepsy DRB1*15 DQB1*0602 DQA1*0102 Test
A genetic test to identify specific markers associated with an increased risk of developing narcolepsy, a chronic sleep disorder.
Myeloproliferative Neoplasia MPN Extended Profile Test
The Myeloproliferative Neoplasia (MPN) Extended Profile Test helps diagnose blood cancers by detecting specific genetic mutations linked to MPNs. This test aids in guiding treatment and monitoring disease progression.
CNGA3 Gene Achromatopsia Type 2 Genetic Test
Genetic test to identify mutations in the CNGA3 gene associated with Achromatopsia Type 2, a form of severe color blindness. Helps understand hereditary visual disorders.
SNX14 Gene Cerebellar Ataxia SNX14 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SNX14 gene associated with cerebellar ataxia. Helps diagnose the genetic cause of neurological disorders affecting coordination and balance.
RNF216 Gene Gordon Holmes Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RNF216 gene associated with Gordon Holmes Syndrome, a rare neurological disorder. Confirm with the laboratory before booking.
Ryr1 Gene Minicore Myopathy With External Ophthalmoplegia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the RYR1 gene associated with minicore myopathy and external ophthalmoplegia. Helps diagnose specific muscle weakness and eye movement disorders.
CLP1 Gene Pontocerebellar Hypoplasia Type 10 Genetic Test
Genetic test to identify mutations in the CLP1 gene associated with Pontocerebellar Hypoplasia Type 10, a neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
ST6GAL2 Gene Beta-Galactosamide Alpha-2,6-Sialyltransferase 2 Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ST6GAL2 gene, associated with certain metabolic disorders. Confirm with the laboratory before booking.
QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the QDPR gene associated with BH4-deficient hyperphenylalaninemia, a metabolic disorder. Helps in diagnosis and management.
FOXI1 Gene Deafness Autosomal Recessive Type 4 Genetic Test
Genetic test to identify mutations in the FOXI1 gene associated with autosomal recessive deafness. Useful for individuals with a family history of hearing loss.
MATN3 Gene Epiphyseal Dysplasia Multiple Type 5 Genetic Test
Genetic test for variations in the MATN3 gene, associated with multiple epiphyseal dysplasia and related bone/skin conditions. Uses Next Generation Sequencing (NGS).
SLC39A13 Gene Spondylocheirodysplasia Ehlers-Danlos Syndrome-like Genetic Test
Genetic test to identify mutations in the SLC39A13 gene associated with spondylocheirodysplasia and Ehlers-Danlos syndrome-like conditions.
TGFB2 Gene Loeys-Dietz Syndrome Type 4 Genetic Test
This genetic test analyzes the TGFB2 gene to identify mutations associated with Loeys-Dietz syndrome type 4, a condition affecting connective tissues and increasing risk for vascular diseases.
KHDC3L Gene Hydatidiform Mole Recurrent Type 2 Genetic Test
Genetic test analyzing the KHDC3L gene to identify risks associated with hydatidiform moles and recurrent pregnancy loss. Utilizes Next Generation Sequencing (NGS) technology.
POLE Gene FILS Syndrome Genetic Test
Genetic test to identify mutations in the POLE gene associated with FILS syndrome, a condition involving dysmorphic features and developmental issues. Utilizes Next Generation Sequencing (NGS).
RBM10 Gene Tarp Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the RBM10 gene for mutations associated with Tarp Syndrome. Helps diagnose RBM10-related conditions.
cKIT Mutation Screening Exons 9 11 13 17 AML
This genetic test identifies specific mutations in the cKIT gene (Exons 9, 11, 13, 17) associated with Acute Myeloid Leukemia (AML), aiding in treatment planning and prognosis.
Rett Syndrome Deletion Duplication Detection
A genetic test to detect deletions or duplications in the MECP2 gene, associated with Rett Syndrome. Helps in diagnosis and management.
Treponema Palladium Syphilis RNA Detection Qualitative Test
Detects the presence of Treponema pallidum RNA, the bacterium causing syphilis, for early and accurate diagnosis. This qualitative test helps guide timely treatment.
DiGeorge Syndrome FISH
The DiGeorge Syndrome FISH test detects specific chromosomal changes linked to DiGeorge Syndrome, aiding in early diagnosis and management. Confirm with the laboratory before booking.
Myoglobin Serum Test
The Myoglobin Serum Test measures myoglobin levels in the blood to help diagnose muscle damage or disorders. Confirm with the laboratory before booking.
SCA Spinocerebellar Ataxia Profile Any 4 Markers Test
Genetic test to identify markers for Spinocerebellar Ataxia (SCA), a group of inherited neurological disorders affecting coordination and balance. Helps guide management for those with symptoms or family history.
CNGB3 Gene Achromatopsia Type 3 Genetic Test
This genetic test identifies mutations in the CNGB3 gene, which can cause achromatopsia, a condition affecting color vision and visual acuity. It helps diagnose the genetic basis of this vision disorder.
VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 Genetic Test
Genetic test to identify mutations in the VLDLR gene associated with Cerebellar Hypoplasia and Mental Retardation, potentially with Quadrupedal Locomotion Type 1. Uses Next-Generation Sequencing (NGS) technology.
TFG Gene Hereditary Motor and Sensory Neuropathy Okinawa Type Genetic Test
Genetic test to identify mutations in the TFG gene associated with Hereditary Motor and Sensory Neuropathy, Okinawa type. Helps understand risk and inform management.
RAD51 Gene Mirror Movements Type 2 Genetic Test
The RAD51 Gene Mirror Movements Type 2 NGS Genetic DNA Test uses Next-Generation Sequencing (NGS) to identify mutations in the RAD51 gene, which may be linked to certain neurological disorders. This test can help understand genetic predispositions, especially for individuals with a family history of neurological conditions.
AMPD2 Gene Pontocerebellar Hypoplasia Type 9 Genetic Test
This genetic test identifies mutations in the AMPD2 gene associated with Pontocerebellar Hypoplasia Type 9, a rare neurological disorder. It uses Next-Generation Sequencing (NGS) technology.
SLC10A2 Gene Bile Acid Malabsorption Primary Genetic Test
Genetic test to identify variations in the SLC10A2 gene associated with bile acid malabsorption, aiding in the diagnosis of related metabolic disorders.
PCBD1 Gene Hyperphenylalaninemia BH4 Deficient Type D Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PCBD1 gene, associated with Hyperphenylalaninemia BH4 Deficient Type D, a metabolic disorder affecting phenylalanine metabolism. Aids in early diagnosis and management.
HGF Gene Deafness Autosomal Recessive Type 39 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HGF gene associated with autosomal recessive deafness type 39. Helps understand genetic risk for hearing loss.
Dsg1 Gene Erythroderma Congenital with Palmoplantar Keratoderma Hypotrichosis and Hyper IgE Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DSG1 gene associated with congenital erythroderma, palmoplantar keratoderma, hypotrichosis, and Hyper IgE syndrome.
FLNB Gene Spondylocarpotarsal Synostosis Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FLNB gene associated with Spondylocarpotarsal Synostosis Syndrome, a rare condition causing skeletal abnormalities.
GUCY1A3 Gene Moyamoya Type 6 with Achalasia Genetic Test
Genetic test for mutations in the GUCY1A3 gene associated with Moyamoya disease and Achalasia, using Next Generation Sequencing (NGS).
Fgf8 Gene Hypogonadotropic Hypogonadism Type 6 With Or Without Anosmia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FGF8 gene for mutations associated with Hypogonadotropic Hypogonadism Type 6, which may occur with or without anosmia (loss of smell).
WNT7A Gene Fibular Aplasia or Hypoplasia Femoral Bowing and Poly Syn and Oligodactyly Genetic Test
This genetic test analyzes the WNT7A gene to help diagnose conditions associated with limb development abnormalities like fibular aplasia/hypoplasia, femoral bowing, and syndactyly/oligodactyly. Confirm with the laboratory before booking.
CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CHSY1 gene associated with Temtamy Preaxial Brachydactyly Syndrome, a condition affecting finger and toe development.
cKIT Mutation Screening Exons 9 11 13 17 Gastrointestinal Stromal Tumors
cKIT Mutation Screening Exons 9, 11, 13, 17 test helps identify genetic changes in Gastrointestinal Stromal Tumors (GISTs) to guide personalized treatment.
Review of 20 Slide and Block
A specialized histopathological review of 20 previously prepared tissue slides and blocks to aid in the diagnosis of genetic conditions.
E2A T119Q23P13 Qualitative
The E2A T119Q23P13 Qualitative test detects a specific genetic translocation associated with certain blood cancers, like acute lymphoblastic leukemia (ALL). This test helps guide diagnosis and treatment decisions.
Cryoglobulins Qualitative Test
Detects cryoglobulins, abnormal proteins in the blood linked to autoimmune diseases, infections, and liver conditions. Helps diagnose and manage related disorders.
FISH SRYGENE Test
The FISH SRYGENE Test uses Fluorescence In Situ Hybridization (FISH) to analyze the SRY gene on the Y chromosome, aiding in the diagnosis of genetic disorders related to sex development.
SCA Spinocerebellar Ataxia Comprehensive Profile Test
Comprehensive genetic testing for Spinocerebellar Ataxia (SCA), analysing 6 key genes associated with inherited movement and coordination disorders. Essential for diagnosis and management.
GNAT2 Gene Achromatopsia Type 4 Genetic Test
Genetic test to identify mutations in the GNAT2 gene associated with Achromatopsia, a condition affecting color vision and visual acuity. Uses Next-Generation Sequencing (NGS) technology.
CST3 Gene Cerebral Amyloid Angiopathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CST3 gene for variations associated with cerebral amyloid angiopathy (CAA), a condition affecting brain blood vessels.
RAB27A Gene Griscelli Syndrome Type 2 Genetic Test
Genetic test for Griscelli syndrome type 2, a rare disorder affecting the nervous system and immune function. Uses Next Generation Sequencing (NGS) to identify mutations in the RAB27A gene.
DNAL4 Gene Mirror Movements Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the DNAL4 gene associated with Mirror Movements Type 3, a neurological disorder. Helps in diagnosis and understanding potential risks.
COL4A2 Gene Porencephaly Type 2 Genetic Test
This genetic test identifies mutations in the COL4A2 gene associated with porencephaly type 2, a neurological disorder. It uses Next Generation Sequencing (NGS) to analyze DNA.
UPB1 Gene Betaureidopropionase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the UPB1 gene associated with beta-ureidopropionase deficiency, a rare metabolic disorder. Helps in diagnosis and management.
PRODH Gene Hyperprolinemia Type 1 Genetic Test
Genetic test to identify mutations in the PRODH gene associated with Hyperprolinemia Type 1, a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
ILDR1 Gene Deafness Autosomal Recessive Type 42 Genetic Test
Genetic test to identify mutations in the ILDR1 gene associated with autosomal recessive hearing loss. Suitable for individuals with unexplained hearing loss or a family history of hearing impairment.
GJB3 Gene Erythrokeratodermia Variabilis et Progressive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the GJB3 gene, aiding in the diagnosis of erythrokeratodermia variabilis and related skin disorders. Suitable for individuals with a family history or symptoms of these conditions.
DLL3 Gene Spondylocostal Dysostosis Autosomal Recessive Type 1 Genetic Test
This genetic test identifies mutations in the DLL3 gene associated with Spondylocostal Dysostosis, Autosomal Recessive Type 1. It helps diagnose this condition, which affects spine and rib development.
RNF213 Gene Moyamoya Disease Type 2 Susceptibility to Genetic Test
Genetic test to assess susceptibility to Moyamoya disease Type 2 by analyzing the RNF213 gene using Next Generation Sequencing (NGS). Helps identify individuals at risk, particularly those with a family history.
KISS1 Gene Hypogonadotropic Hypogonadism Genetic Test
This genetic test analyzes the KISS1 gene to help identify potential causes of hypogonadotropic hypogonadism, a condition affecting reproductive health. Utilizes Next Generation Sequencing (NGS) technology.
FRAS1 Gene Fraser Syndrome Genetic Test
This genetic test identifies mutations in the FRAS1 gene associated with Fraser syndrome, a condition causing physical abnormalities. It aids in diagnosis and management for individuals with dysmorphology.
KCNH1 Gene Temple-Baraitser Syndrome Genetic Test
Genetic test to identify mutations in the KCNH1 gene associated with Temple-Baraitser syndrome, a condition characterized by distinct physical features and developmental delays.
Toxoplasma Gondii RNA Detection Qualitative Test
Detects the presence of Toxoplasma gondii RNA to identify an active parasitic infection, particularly important for individuals with weakened immune systems or specific symptoms. Uses Real-Time PCR technology.
Early Infantile Epileptic Encephalopathy Gene Panel
A genetic test to identify mutations linked to early-onset epilepsy in infants, aiding diagnosis and treatment planning.
SCA Spinocerebellar Ataxia Extended Profile Test
The SCA Spinocerebellar Ataxia Extended Profile Test identifies various genetic forms of spinocerebellar ataxia (SCA), a group of inherited disorders affecting movement and coordination. This test helps in early diagnosis and management.
PDE6H Gene Achromatopsia Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PDE6H gene associated with Achromatopsia Type 6, a condition causing color blindness and vision impairment.
PRKCH Gene Cerebral Infarction Susceptibility to Genetic Test
This genetic test assesses your predisposition to cerebral infarction (stroke) by analyzing variations in the PRKCH gene using Next-Generation Sequencing (NGS).
TTN Gene Hereditary Myopathy with Early Respiratory Failure Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TTN gene associated with hereditary myopathy and early respiratory failure. Helps diagnose neuromuscular disorders.
FOXRED1 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FOXRED1 gene, associated with mitochondrial complex I deficiency and neurological disorders.
SCN4A Gene Potassium Aggravated Myotonia Genetic Test
Genetic test to identify mutations in the SCN4A gene associated with potassium-aggravated myotonia, a condition affecting muscle function. Helps diagnose specific neurological disorders.
HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HSD3B7 gene, associated with bile acid synthesis defects. Helps diagnose metabolic disorders.
PTS Gene Hyperphenylalaninemia BH4deficient Type A Genetic Test
Genetic test to identify mutations in the PTS gene associated with BH4-deficient hyperphenylalaninemia, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
Marveld2 Gene Deafness Autosomal Recessive Type 49 Genetic Test
Genetic test to identify mutations in the Marveld2 gene, associated with a specific type of hereditary hearing loss. Utilizes Next Generation Sequencing (NGS) technology.
GJB4 Gene Erythrokeratodermia Variabilis et Progressive Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GJB4 gene, associated with certain skin disorders like erythrokeratodermia variabilis. Helps in diagnosis and management.
LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 Genetic Test
Genetic test to identify mutations in the LFNG gene associated with Spondylocostal Dysostosis Autosomal Recessive Type 3, a condition affecting spine and rib development.
SLC6A2 Gene Orthostatic Intolerance Genetic Test
Genetic test analyzing the SLC6A2 gene to identify predispositions related to orthostatic intolerance, helping guide diagnosis and treatment.
WDR11 Gene Hypogonadotropic Hypogonadism Type 14 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the WDR11 gene associated with hypogonadotropic hypogonadism, a condition affecting reproductive health. Recommended for individuals with reproductive health concerns.
GRIP1 Gene Fraser Syndrome Genetic Test
Genetic test to identify mutations in the GRIP1 gene associated with Fraser syndrome, a condition affecting development, particularly in children.
C12orf57 Gene Temtamy Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the C12orf57 gene associated with Temtamy syndrome. Helps diagnose genetic conditions related to dysmorphology.
HLA B Locus Typing Any Antigen Test
The HLA B Locus Typing Any Antigen Test identifies specific antigens in the human leukocyte antigen (HLA) system. This test is important for organ transplant compatibility and diagnosing certain autoimmune diseases.
Myotonic Dystrophy Comprehensive Profile Test
Comprehensive genetic testing to detect markers for Myotonic Dystrophy, a neurologic disorder. Helps identify genetic predisposition for early diagnosis and management.
SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test
The SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test helps diagnose Spinocerebellar Ataxia Type 1, a genetic disorder affecting coordination and balance. This test identifies mutations in the ATXN1 gene.
CACNA1F Gene Aland Island Eye Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CACNA1F gene associated with Aland Island eye disease, a hereditary condition affecting vision.
APP Gene Cerebral Amyloid Angiopathy APP Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the APP gene associated with cerebral amyloid angiopathy (CAA). Helps assess risk for related neurological conditions.
FLNA Gene Heterotopia Periventricular ED Variant Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FLNA gene associated with neurological disorders like periventricular heterotopia. Helps understand the genetic basis of brain development conditions.
MTND2 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test for mutations in the MTND2 gene, associated with mitochondrial complex I deficiency and neurological disorders. Utilizes Next Generation Sequencing (NGS) technology.
Chr 15q11 Gene Prader-Willi Syndrome Genetic Test
This genetic test identifies alterations in the 15q11 region of chromosome 15 associated with Prader-Willi syndrome (PWS). Using Next-Generation Sequencing (NGS), it aids in the diagnosis and management of this complex genetic disorder.
AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital Genetic Test
This genetic test identifies mutations in the AKR1D1 gene, which can cause bile acid synthesis defects. It helps diagnose metabolic disorders related to bile acid production.
ALDH4A1 Gene Hyperprolinemia Type 2 Genetic Test
Genetic test to identify mutations in the ALDH4A1 gene associated with hyperprolinemia type 2, a metabolic disorder affecting proline levels. Helps diagnose and manage related health issues.
CIB2 Gene Deafness Autosomal Recessive Type 48 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CIB2 gene associated with autosomal recessive deafness type 48. Helps diagnose genetic causes of hearing loss.
Cox4i2 Gene Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia and Calvarial Hyperostosis Genetic Test
Genetic test for mutations in the COX4I2 gene associated with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Helps identify predispositions and inform health management.
MESP2 Gene Spondylocostal Dysostosis Autosomal Recessive Type 2 Genetic Test
Genetic test to identify mutations in the MESP2 gene associated with Spondylocostal Dysostosis Autosomal Recessive Type 2, a condition affecting skeletal development. This test uses Next-Generation Sequencing (NGS) technology.
ISCU Gene Myopathy with Lactic Acidosis Hereditary Genetic Test
Genetic test to identify mutations in the ISCU gene associated with myopathy and lactic acidosis. Uses next-generation sequencing (NGS) for accurate results.
AR Gene Hypospadias Type 1 Xlinked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AR gene associated with hypospadias, a congenital condition. Helps assess risk and inform management.
FREM2 Gene Fraser Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the FREM2 gene associated with Fraser syndrome, a rare developmental disorder. Confirm with the laboratory before booking.
CUL7 Gene Three M Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the CUL7 gene associated with Three M Syndrome Type 1, aiding in the diagnosis of growth delays and distinctive facial features in children.
Endocrine Cancer Gene Panel
The Endocrine Cancer Gene Panel is a genetic test identifying mutations linked to endocrine cancers (affecting hormone-producing glands). It helps assess genetic predisposition for individuals with a family history or symptoms.
SCA11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test
Test to identify mutations in the TTBK2 gene associated with Spinocerebellar Ataxia (SCA11), a neurological disorder affecting coordination and balance.
GPR143 Gene Albinism Ocular Type I Nettleship-Falls Type Genetic Test
Genetic test to identify mutations in the GPR143 gene associated with Ocular Albinism Type I (Nettleship-Falls). Helps diagnose the condition and understand genetic risks.
GAD1 Gene Cerebral Palsy Type 1 Spastic Quadriplegic Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GAD1 gene associated with spastic quadriplegic cerebral palsy. Helps understand genetic factors contributing to neurological disorders.
FLNA Gene Heterotopia Periventricular X-Linked Dominant Genetic Test
Genetic test for mutations in the FLNA gene, associated with neurological conditions like periventricular heterotopia. Utilizes Next-Generation Sequencing (NGS).
MTND1 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MTND1 gene, associated with mitochondrial complex I deficiency and neurological disorders.
Ndn Gene Prader-Willi Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the NDN gene for mutations associated with Prader-Willi syndrome (PWS), a complex neurological disorder. Helps in diagnosis and management.
CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CYP7B1 gene, associated with bile acid synthesis defects. Important for diagnosing specific metabolic disorders.
SARS2 Gene Hyperuricemia Pulmonary Hypertension Renal Failure and Alkalosis Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify genetic factors associated with hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. Helps in early diagnosis and management.
COL11A2 Gene Deafness Autosomal Recessive Type 53 Genetic Test
Genetic test to identify mutations in the COL11A2 gene associated with autosomal recessive deafness. Uses Next-Generation Sequencing (NGS) for accurate results. Suitable for individuals with hearing loss or a family history of deafness.
EXT1 Gene Exostoses Multiple Type 1 Genetic Test
The EXT1 Gene Exostoses Multiple Type 1 NGS Genetic DNA Test identifies mutations in the EXT1 gene associated with hereditary bone growth disorders. This test is important for individuals with a family history of multiple hereditary exostoses (MHE).
ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ACP5 gene for mutations associated with spondyloenchondrodysplasia and immune dysregulation. Helps diagnose conditions related to bone, skin, and immune system health.
RASA1 Gene Parkes Weber Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RASA1 gene, associated with Parkes Weber syndrome and other vascular diseases. Confirm with the laboratory before booking.
MAMLD1 Gene Hypospadias Type 2 Xlinked Genetic Test
This genetic test analyzes the MAMLD1 gene to identify mutations associated with hypospadias, a congenital condition affecting male genitalia. It helps understand genetic risks and informs family planning.
ALX3 Gene Frontonasal Dysplasia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ALX3 gene associated with Frontonasal Dysplasia Type 1. Helps in diagnosis and family counseling.
WNT3 Gene Tetraamelia Autosomal Recessive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the WNT3 gene for mutations associated with Tetraamelia, a rare congenital condition affecting limb development. Helps in early diagnosis and management, particularly for pediatric patients.
CLL NGS Panel FISH KT IGVH Mutation Analysis NGS TP53 Mutation Analysis
A comprehensive genetic test for Chronic Lymphocytic Leukemia (CLL), analyzing key mutations like IGVH and TP53 to guide treatment and understand prognosis. Confirm price and availability with the laboratory.
Epidermal Growth Factor Receptor Mutation Analysis EGFR Exon 18 19 20 21
This genetic test identifies specific mutations in the EGFR gene (Exons 18, 19, 20, 21) in tumor tissue. It helps guide treatment decisions, particularly for non-small cell lung cancer, by indicating potential eligibility for targeted therapies.
Myotonic Dystrophy Type 1 Test
This genetic test identifies mutations in the DMPK gene associated with Myotonic Dystrophy Type 1 (DM1), a hereditary neuromuscular disorder. It helps diagnose the condition and inform management.
SCA12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test
Genetic test to identify mutations in the PPP2R2B gene associated with Spinocerebellar Ataxia Type 12 (SCA12), a condition affecting coordination and balance.
SLC24A5 Gene Albinism Oculocutaneous Nonsyndromic Genetic Test
This genetic test identifies mutations in the SLC24A5 gene, associated with oculocutaneous albinism, a condition affecting pigmentation. It helps understand genetic risks for individuals and families.
KANK1 Gene Cerebral Palsy Type 2 Spastic Quadriplegic Genetic Test
Genetic test to identify mutations in the KANK1 gene associated with Cerebral Palsy Type 2, Spastic Quadriplegic form. Helps understand genetic factors contributing to this neurological disorder.
RNF39 Gene Hippocampal Longterm Potentiation RFN39 Related Genetic Test
Genetic test analysing the RNF39 gene, associated with neurological conditions and cognitive function. Helps identify potential genetic predispositions.
MTND3 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the MTND3 gene for mutations related to mitochondrial complex I deficiency, often associated with neurological disorders.
SNRPN Gene Prader-Willi Syndrome Genetic Test
This genetic test analyzes the SNRPN gene to help identify mutations associated with Prader-Willi Syndrome (PWS), a complex genetic disorder affecting growth, metabolism, and cognitive function. Confirm with the laboratory before booking.
Amacr Gene Bile Acid Synthesis Defect Type 4 Congenital Genetic Test
Genetic test to identify mutations in the AMACR gene associated with bile acid synthesis defects, aiding in the diagnosis of metabolic disorders.
CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CYP11B2 gene, associated with congenital hypoaldosteronism due to CMO I deficiency. Helps diagnose metabolic disorders affecting aldosterone production.
PJVK Gene Deafness Autosomal Recessive Type 59 Genetic Test
Genetic test to identify mutations in the PJVK gene associated with autosomal recessive deafness. Helps understand the genetic cause of hearing loss.
EXT2 Gene Exostoses Multiple Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EXT2 gene associated with Multiple Exostoses Type 2. Helps understand genetic risk and guide management.
B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without Fractures Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the B3GALT6 gene. Helps diagnose Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1, a rare condition affecting bone and joint health. Genetic counseling is recommended before testing.
SERPINE1 Gene Plasminogen Activator Inhibitor Type 1 Genetic Test
The SERPINE1 Gene Plasminogen Activator Inhibitor Type 1 NGS Genetic DNA Test assesses genetic variations linked to vascular diseases using advanced Next Generation Sequencing (NGS) technology. This test helps identify potential risks associated with PAI-1 levels.
LHCGR Gene Leydig Cell Hypoplasia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LHCGR gene associated with Leydig cell hypoplasia, a condition potentially causing reproductive disorders.
ALX4 Gene Frontonasal Dysplasia Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ALX4 gene associated with Frontonasal Dysplasia Type 2. Aids in diagnosis and management.
OBSL1 Gene Three M Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the OBSL1 gene associated with Three M syndrome. Helps in diagnosing and managing this condition.
VZV Varicella Zoster Virus RNA Detection Qualitative Test
Detects the presence of Varicella Zoster Virus (VZV) RNA, the virus causing chickenpox and shingles. This test helps diagnose active VZV infections.
FISH Trisomy 21 Down Syndrome Test
The FISH Trisomy 21 Down Syndrome Test uses Fluorescence In Situ Hybridization (FISH) to detect an extra chromosome 21 in an unborn child, indicating Down syndrome. This test provides expectant parents with important genetic information.
NAFLD PNPLA3 TM6SF2 Genotyping Test
Genetic test identifying variants in PNPLA3 and TM6SF2 genes linked to non-alcoholic fatty liver disease (NAFLD) risk.
SCA14 Spinocerebellar Ataxia PRKCG Gene Mutation Test
The SCA14 Spinocerebellar Ataxia PRKCG Gene Mutation Test identifies mutations in the PRKCG gene associated with a rare form of ataxia. This test helps diagnose genetic causes of neurological symptoms.
Tyr Gene Albinism Oculocutaneous Type 1A Genetic Test
Genetic test to identify mutations in the TYR gene associated with Oculocutaneous Albinism Type 1A (OCA1A). Helps confirm diagnosis and understand genetic basis.
CYP27A1 Gene Cerebrotendinous Xanthomatosis Genetic Test
This genetic test identifies mutations in the CYP27A1 gene, associated with Cerebrotendinous Xanthomatosis, a rare neurological disorder. It helps in early diagnosis and management.
Dkc1 Gene Hoyeraal-Hreidarsson Syndrome Genetic Test
This genetic test identifies mutations in the DKC1 gene associated with Hoyeraal-Hreidarsson syndrome, a rare neurological disorder. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
MTND4L Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MTND4L gene, associated with mitochondrial Complex I deficiency and neurological disorders. Confirm with the laboratory before booking.
ALS2 Gene Primary Lateral Sclerosis Juvenile Genetic Test
Genetic test to identify mutations in the ALS2 gene associated with juvenile primary lateral sclerosis (PLS). Uses Next-Generation Sequencing (NGS) for comprehensive analysis.
ABCD3 Gene Bile Acid Synthesis Defect Type 5 Congenital Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ABCD3 gene, associated with bile acid synthesis defect type 5, a congenital metabolic disorder. Helps in diagnosis and management.
CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO II Deficiency Genetic Test
Genetic test to identify mutations in the CYP11B2 gene associated with congenital hypoaldosteronism, a condition affecting hormone production and electrolyte balance.
TMIE Gene Deafness Autosomal Recessive Type 6 Genetic Test
Genetic test to identify mutations in the TMIE gene associated with autosomal recessive hearing loss. Uses Next Generation Sequencing (NGS) technology.
ERCC4 Gene Fanconi Anemia Complementation Group Q Genetic Test
This genetic test identifies mutations in the ERCC4 gene, which is linked to Fanconi Anemia, a condition affecting DNA repair and increasing cancer risk. It uses Next-Generation Sequencing (NGS) technology.
MATN3 Gene Spondyloepimetaphyseal Dysplasia MATN3 Related Genetic Test
Genetic test to identify mutations in the MATN3 gene, associated with certain skeletal disorders like spondyloepimetaphyseal dysplasia. Helps in diagnosis and management.
ADA2 Gene Polyarteritis Nodosa Childhood-Onset Genetic Test
Genetic test to detect mutations in the ADA2 gene associated with childhood-onset Polyarteritis Nodosa, a serious vascular disease. Early diagnosis can guide treatment.
NANOS1 Gene Oligoasthenoteratozoospermia Genetic Test
Genetic test analyzing the NANOS1 gene to identify mutations associated with male infertility, specifically oligoasthenoteratozoospermia. Uses Next Generation Sequencing (NGS) technology.
WDR73 Gene Galloway-Mowat Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the WDR73 gene, associated with Galloway-Mowat syndrome. Helps diagnose developmental delays and specific physical features.
Ccdc8 Gene Three M Syndrome Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CCDC8 gene associated with Three M syndrome, aiding in diagnosis and management.
VZV Varicella Zoster Virus Viral Load Quantitative Test
Measures the amount of varicella zoster virus (VZV) in your body. This test helps assess the severity of infection and guide treatment, especially for those with weakened immune systems or severe symptoms.
SCA17 Spinocerebellar Ataxia TBP Gene Mutation Test
This genetic test identifies mutations in the TBP gene associated with Spinocerebellar Ataxia Type 17 (SCA17), a neurodegenerative disorder affecting coordination and balance. Confirm with the laboratory before booking.
Tyr Gene Albinism Oculocutaneous Type 1B Genetic Test
This genetic test identifies mutations in the TYR gene associated with Oculocutaneous Albinism Type 1B (OCA1B), a condition affecting melanin production. It can help confirm diagnosis and inform family planning.
Dync1h1 Gene Charcot-Marie-Tooth Disease Axonal Type 20 Genetic Test
Genetic test to identify mutations in the DYNC1H1 gene associated with Charcot-Marie-Tooth disease axonal type 20, a hereditary neurological disorder.
SPTLC1 Gene HSAN1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SPTLC1 gene associated with Hereditary Sensory and Autonomic Neuropathy type 1 (HSAN1).
MTND4 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MTND4 gene, associated with Mitochondrial Complex I deficiency and neurological disorders. Helps diagnose mitochondrial diseases affecting cellular energy production.
SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Dominant Genetic Test
Genetic test for mutations in the SLC25A4 gene associated with Progressive External Ophthalmoplegia (PEO) with mitochondrial deletions. Helps diagnose and understand this specific genetic condition.
BTD Gene Biotinidase Deficiency Genetic Test
Genetic test to detect mutations in the BTD gene, indicating biotinidase deficiency, a metabolic disorder. Early detection allows for timely management.
APOA1 Gene Hypoalphalipoproteinemia Genetic Test
Genetic test for APOA1 gene mutations associated with hypoalphalipoproteinemia, a condition linked to low HDL cholesterol and increased cardiovascular risk. Uses Next-Generation Sequencing (NGS).
SLC26A5 Gene Deafness Autosomal Recessive Type 61 Genetic Test
Genetic test to identify mutations in the SLC26A5 gene associated with autosomal recessive deafness. Helps diagnose hereditary hearing loss.
MIR17HG Gene Feingold Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MIR17HG gene associated with Feingold Syndrome Type 2. Aids in diagnosis and management.
CHST3 Gene Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations Genetic Test
This genetic test analyzes the CHST3 gene to help diagnose Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, a condition affecting bone and cartilage development. It uses advanced Next-Generation Sequencing (NGS) technology.
Proc Gene Protein C Deficiency AD Genetic Test
Genetic test to identify mutations in the PROC gene associated with Protein C deficiency, a risk factor for vascular diseases.
ZP1 Gene Oocyte Maturation Defect Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ZP1 gene for mutations related to oocyte maturation defects and reproductive disorders. Helps identify potential genetic causes of infertility.
KAT6B Gene Genitopatellar Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the KAT6B gene, associated with Genitopatellar Syndrome. Helps diagnose genetic conditions and inform family planning.
FAM58A Gene Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Genetic Test
Genetic test to identify mutations in the FAM58A gene associated with toe syndactyly, telecanthus, and anogenital/renal malformations. Helps in diagnosis and management.
Common Neurological Neuromuscular Diseases Gene Panel
The Common Neurological Neuromuscular Diseases Gene Panel identifies genetic mutations linked to various neurological and neuromuscular disorders, aiding in early diagnosis and personalized treatment.
Cryptococcus Neoformans Detection PCR Test
Detects the presence of Cryptococcus neoformans fungus using PCR technology. This test is crucial for diagnosing infections, especially in individuals with weakened immune systems. Confirm with the laboratory before booking.
SCA2 Spinocerebellar Ataxia ATXN2 Gene Mutation Test
This genetic test identifies mutations in the ATXN2 gene associated with Spinocerebellar Ataxia Type 2 (SCA2), a hereditary neurological disorder. It aids in diagnosing ataxia symptoms.
TYRP1 Gene Albinism Oculocutaneous Type 3 Genetic Test
Genetic test to identify mutations in the TYRP1 gene associated with Oculocutaneous Albinism Type 3 (OCA3). Uses Next Generation Sequencing (NGS) technology.
CIZ1 Gene Cervical Dystonia Genetic Test
This genetic test analyzes the CIZ1 gene to identify mutations associated with cervical dystonia, a neurological disorder causing involuntary neck muscle contractions. It helps assess risk and guide treatment for individuals with symptoms or a family history.
Wnk1 Gene Hsan2A Genetic Test
The WNK1 Gene HSAN2A NGS Genetic DNA Test identifies genetic mutations linked to hereditary sensory and autonomic neuropathy (HSAN), aiding in the diagnosis and management of neurological disorders.
MTND5 Gene Mitochondrial Complex I Deficiency Genetic Test
This genetic test analyzes the MTND5 gene to identify mutations linked to mitochondrial complex I deficiency, a condition often associated with neurological disorders. It uses Next-Generation Sequencing (NGS) for accurate results.
POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1 Autosomal Dominant Genetic Test
Genetic test for mutations in the POLG gene associated with Progressive External Ophthalmoplegia (PEO), a condition affecting eye muscle control. Uses Next Generation Sequencing (NGS).
BLM Gene Bloom Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the BLM gene associated with Bloom syndrome. Recommended for individuals with a family history or symptoms suggestive of the condition.
ApoB Gene Hypobetalipoproteinemia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ApoB gene associated with hypobetalipoproteinemia type 1, a metabolic disorder. Helps identify genetic risks for individuals with a family history or symptoms.
LRTOMT Gene Deafness Autosomal Recessive Type 63 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LRTOMT gene associated with autosomal recessive deafness. Helps understand the genetic basis of hearing loss.
COL11A2 Gene Fibrochondrogenesis 2 Genetic Test
Genetic test analyzing the COL11A2 gene to identify mutations associated with fibrochondrogenesis and related osteology/dermatology disorders. Uses Next Generation Sequencing (NGS) technology.
DDR2 Gene Spondylometaepiphyseal Dysplasia Short Limb-Hand Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DDR2 gene for mutations associated with Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type. Helps diagnose skeletal dysplasia.
CUL3 Gene Pseudohypoaldosteronism Type 2E Genetic Test
This genetic test analyzes the CUL3 gene using Next Generation Sequencing (NGS) to identify mutations associated with Pseudohypoaldosteronism Type 2E, a condition affecting blood pressure and electrolytes.
SOHLH1 Gene Oogenesis Dysfunction Genetic Test
Genetic test analyzing the SOHLH1 gene to identify potential causes of oogenesis dysfunction and reproductive disorders. Offers insights for fertility assessment and family planning.
FBN1 Gene Geleophysic Dysplasia Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FBN1 gene for variations associated with Geleophysic dysplasia type 2. Helps in diagnosis and management of this rare connective tissue disorder.
MSX1 Gene Tooth Agenesis Selective Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the MSX1 gene for mutations associated with selective tooth agenesis (missing teeth).
Colorectal Cancer Panel NRAS KRAS BRAF
Genetic test identifying NRAS, KRAS, and BRAF mutations in colorectal cancer tissue to guide treatment.
Rubella Qualitative PCR
Detects the presence of the rubella virus using PCR. Essential for diagnosis, especially during pregnancy or if symptoms are present.
West Nile Virus RNA Detection Qualitative Test
Detects the presence of West Nile Virus RNA in serum, plasma, or whole blood using Real Time PCR. Essential for diagnosing active WNV infections.
Neisseria Gonorrhea Qualitative PCR Test
Detects the presence of Neisseria gonorrhoeae bacteria, the cause of gonorrhea, using a highly sensitive PCR test. Early detection is key for effective treatment and preventing complications.
SCA23 Spinocerebellar Ataxia PDYN Gene Mutation Test
This genetic test identifies mutations in the PDYN gene associated with Spinocerebellar Ataxia type 23 (SCA23), a neurological disorder affecting coordination and balance. Confirm with the laboratory before booking.
C10ORF11 Gene Albinism Oculocutaneous Type 5 Genetic Test
Genetic test to identify mutations in the C10ORF11 gene associated with oculocutaneous albinism type 5, a condition affecting pigmentation and vision. Uses Next-Generation Sequencing (NGS) technology.
NSDHL Gene CHILD Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NSDHL gene associated with CHILD syndrome, a rare neurological disorder. Helps diagnose, understand risks, and inform family planning.
Retreg1 Gene Hsan2b Genetic Test
The Retreg1 Gene Hsan2b Ngs Genetic DNA Test uses advanced Next Generation Sequencing (NGS) technology to identify genetic variations associated with neurological disorders. This test can help understand genetic risks and inform health management.
MTND6 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the MTND6 gene, associated with mitochondrial complex I deficiency and neurological disorders. Helps in diagnosis and management.
RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Recessive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the RNASEH1 gene, associated with Progressive External Ophthalmoplegia and other mitochondrial disorders.
BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the BCAT1 gene, associated with Branched-Chain Aminotransferase 1 Deficiency, a metabolic disorder. Confirm with the laboratory before booking.
GNA11 Gene Hypocalcemia Autosomal Dominant 2 Genetic Test
The GNA11 Gene Hypocalcemia Autosomal Dominant 2 Genetic Test uses Next Generation Sequencing (NGS) to analyze the GNA11 gene. This test helps identify genetic variations associated with hypocalcemia, a condition involving low blood calcium levels. It is particularly relevant for individuals with a family history of metabolic disorders.
LHFPL5 Gene Deafness Autosomal Recessive Type 67 Genetic Test
Genetic test to identify mutations in the LHFPL5 gene associated with autosomal recessive deafness. Utilizes Next-Generation Sequencing (NGS) technology.
COL11A1 Gene Fibrochondrogenesis Type 1 Genetic Test
This genetic test identifies mutations in the COL11A1 gene, which are associated with fibrochondrogenesis type 1, a condition affecting cartilage and bone development. It is useful for diagnosis and family planning.
KRT17 Gene Steatocystoma Multiplex Genetic Test
Genetic test to identify mutations in the KRT17 gene associated with steatocystoma multiplex, a skin disorder characterized by cysts. Uses Next Generation Sequencing (NGS) technology.
KLHL3 Gene Pseudohypoaldosteronism Type 2D Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KLHL3 gene, helping identify potential risks for pseudohypoaldosteronism and related vascular diseases. Suitable for individuals with relevant family history or symptoms.
FSHR Gene Ovarian Dysgenesis Type 1 Genetic Test
This genetic test identifies mutations in the FSHR gene associated with Ovarian Dysgenesis Type 1, a condition affecting female reproductive health. It uses Next Generation Sequencing (NGS) technology to analyze DNA for insights into potential fertility issues.
SATB2 Gene Glass Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SATB2 gene, aiding in the diagnosis of SATB2 gene-related disorders associated with developmental delays and distinct facial features.
PAX9 Gene Tooth Agenesis Selective Type 3 Genetic Test
This genetic test identifies mutations in the PAX9 gene associated with selective tooth agenesis (missing teeth). Using advanced NGS technology, it helps understand the genetic basis of this condition for better dental management.
Complete Inherited Disease Panel
A comprehensive genetic test using Next Generation Sequencing (NGS) to screen for a wide range of inherited disorders. Helps understand genetic risks for individuals and families.
Runx1Runx1t1 Aml1 Eto T821 Quantitative
The Runx1Runx1t1 Aml1 Eto T821 Quantitative test detects specific genetic mutations linked to acute myeloid leukemia (AML), aiding in diagnosis and treatment planning.
Zika Virus Viral Load Quantitative Test
The Zika Virus Viral Load Quantitative Test measures the amount of Zika virus in your body. It helps diagnose infection, guide treatment, and monitor health, especially during pregnancy. Confirm with the laboratory before booking.
Genome Signature HRD
The Genome Signature HRD test identifies homologous recombination deficiency (HRD) in tumors, guiding personalized cancer treatment decisions. This advanced genetic test analyzes tumor tissue and blood samples to understand the tumor's genetic makeup.
Arginase Test
The Arginase Test helps diagnose inborn errors of metabolism by measuring arginase enzyme activity. Essential for individuals with specific symptoms or family history.
FLT3 Gene Mutation Test
The FLT3 Gene Mutation Test helps identify mutations in the FLT3 gene associated with leukemia, guiding treatment decisions. Confirm with the laboratory before booking.
SCA3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test
Test for mutations in the ATXN3 gene associated with Spinocerebellar Ataxia Type 3 (SCA3), a progressive neurological disorder affecting coordination and balance.
SLC45A2 Gene Albinism Oculocutaneous Type 4 Genetic Test
Genetic test to identify mutations in the SLC45A2 gene associated with oculocutaneous albinism type 4, a condition affecting skin, hair, and eye pigmentation. Recommended for individuals with a family history or symptoms.
NKX21 Gene Chorea Hereditary Benign Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the NKX21 gene associated with chorea and related neurological disorders. Recommended for individuals with a family history.
NTRK1 Gene HSAN4 Genetic Test
The NTRK1 Gene HSAN4 NGS Genetic DNA Test identifies mutations in the NTRK1 gene associated with hereditary sensory and autonomic neuropathy type 4 (HSAN4), a specific neurological disorder. This test uses Next Generation Sequencing (NGS) technology for comprehensive genetic analysis.
NDUFAF1 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFAF1 gene, associated with mitochondrial complex I deficiency and neurological disorders. Utilizes Next Generation Sequencing (NGS) technology.
TWNK Gene Progressive External Ophthalmoplegia With Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TWNK gene, associated with Progressive External Ophthalmoplegia and related mitochondrial disorders. Helps in diagnosing specific neurological conditions affecting eye movement and muscle control.
BCKDK Gene Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Genetic Test
Genetic test to identify mutations in the BCKDK gene, associated with branched-chain ketoacid dehydrogenase kinase deficiency, a metabolic disorder. Helps in early diagnosis and management.
AP2S1 Gene Hypocalciuric Hypercalcemia Familial Type 3 Genetic Test
Genetic test for mutations in the AP2S1 gene associated with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3), a condition causing high blood calcium levels. Helps identify genetic risk for metabolic disorders.
DCDC2 Gene Deafness Autosomal Recessive Type 66 Genetic Test
This genetic test identifies mutations in the DCDC2 gene associated with autosomal recessive deafness. It uses Next-Generation Sequencing (NGS) technology to help understand the genetic basis of hearing loss, especially in families with a history of deafness.
ACVR1 Gene Fibrodysplasia Ossificans Progressiva Genetic Test
Genetic test to identify mutations in the ACVR1 gene associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare disorder causing abnormal bone growth. Uses Next Generation Sequencing (NGS) technology.
FBN1 Gene Stiff Skin Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FBN1 gene associated with stiff skin syndrome. Helps in diagnosis and management.
BMPR2 Gene Pulmonary Hypertension Primary Type Genetic Test
Genetic test to identify mutations in the BMPR2 gene associated with primary pulmonary hypertension. Helps understand genetic risk and inform management.
BMP15 Gene Ovarian Dysgenesis Type 2 Genetic Test
Genetic test analyzing the BMP15 gene to identify mutations associated with ovarian dysgenesis and infertility. Utilizes Next Generation Sequencing (NGS) technology.
KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test
Genetic test to identify mutations in the KIF1BP gene associated with Goldberg-Shprintzen Megacolon Syndrome, a condition linked to dysmorphology and megacolon.
GDF1 Gene Transposition of Great Arteries Dextrolooped 3 Genetic Test
Genetic test analyzing the GDF1 gene for mutations associated with transposition of the great arteries, a type of congenital heart defect. Utilizes Next Generation Sequencing (NGS) technology.
Comprehensive Hereditary Cancer Panel 154 Genes
Assess your risk for hereditary cancers with our Comprehensive Hereditary Cancer Panel, analysing 154 genes linked to increased cancer susceptibility. Ideal for individuals with a significant family history of cancer.
Runx1 Runx1t1 Aml1 Eto T821 Qualitative
This test detects the RUNX1-RUNX1T1 fusion gene, a genetic marker associated with a specific type of acute myeloid leukemia (AML). It helps guide diagnosis and treatment decisions.
Whole Exome Sequencing WES Test
Whole Exome Sequencing (WES) analyzes the protein-coding regions of your DNA to identify genetic variations linked to inherited conditions. This comprehensive test is suitable for individuals with unexplained medical conditions or a family history of genetic disorders.
Microarray 60K AFCVS Karyotyping
The Microarray 60K AFCVS Karyotyping test is an advanced genetic analysis used to detect chromosomal abnormalities, providing insights into potential genetic conditions.
SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test
Genetic test to identify mutations in the SPTBN2 gene associated with Spinocerebellar Ataxia Type 5 (SCA5), a neurological disorder affecting coordination and balance.
PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test
Genetic test to identify mutations in the PITX3 gene associated with anterior segment mesenchymal dysgenesis, a condition linked to eye disorders like cataracts and glaucoma.
VPS13A Gene Choreoacanthocytosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the VPS13A gene, associated with Choreoacanthocytosis, a rare neurological disorder. Confirm with the laboratory before booking.
KIF1A Gene HSN2C Genetic Test
The KIF1A Gene HSN2C NGS Genetic DNA Test analyzes the KIF1A gene for mutations linked to neurological disorders, aiding in diagnosis and management.
NDUFA11 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFA11 gene, associated with mitochondrial complex I deficiency and neurological disorders. Helps in diagnosis and management.
POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4 Autosomal Dominant Genetic Test
This genetic test analyzes the POLG2 gene to identify mutations associated with Progressive External Ophthalmoplegia (PEO), a condition causing eye muscle weakness. It uses Next Generation Sequencing (NGS) for accurate detection of genetic variations.
BCAT2 Gene Branched-Chain Aminotransferase 2 Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the BCAT2 gene, associated with branched-chain amino acid metabolism disorders. Helps in diagnosis and management.
ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive Genetic Test
Genetic test to identify mutations in the ABCC8 gene associated with leucine-sensitive hypoglycemia of infancy. Helps in early diagnosis and management.
TMC1 Gene Deafness Autosomal Recessive Type 7 Genetic Test
Genetic test to identify mutations in the TMC1 gene associated with autosomal recessive hearing loss. Suitable for individuals with a family history of deafness.
SRCAP Gene Floating-Harbor Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SRCAP gene, associated with Floating-Harbor syndrome. Helps diagnose this rare genetic disorder.
DNASE1 Gene Systemic Lupus Erythematosus Genetic Test
This genetic test analyzes the DNASE1 gene to identify potential predispositions to Systemic Lupus Erythematosus (SLE), an autoimmune condition. It uses Next Generation Sequencing (NGS) technology.
STIM1 Gene Stormorken Syndrome Genetic Test
The STIM1 Gene Stormorken Syndrome NGS Genetic DNA Test identifies mutations in the STIM1 gene linked to Stormorken syndrome, a rare condition associated with vascular diseases. This test uses Next-Generation Sequencing (NGS) to provide insights into genetic predispositions.
AMH Gene Persistent Mullerian Duct Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the AMH gene associated with Persistent Mullerian Duct Syndrome Type 1, aiding in the diagnosis of reproductive disorders.
BCS1L Gene GRACILE Syndrome Genetic Test
Genetic test to identify mutations in the BCS1L gene associated with GRACILE syndrome, aiding in early diagnosis and management.
SALL1 Gene TownesBrocks Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SALL1 gene, aiding in the diagnosis of Townes-Brocks syndrome. Confirm with the laboratory before booking.
Congenital Myopathy Gene Panel
A genetic test to identify gene mutations linked to congenital myopathies, muscle disorders present from birth, aiding diagnosis and management.
Sickle Cell Disease Mutation Screening
Detects genetic mutations associated with sickle cell disease, a condition affecting hemoglobin. Essential for early diagnosis and management.
Zika Virus RNA Detection Qualitative Test
Detects the presence of Zika virus RNA to diagnose active Zika virus infections, especially important for pregnant women. This qualitative test uses Real Time PCR technology for accurate results.
Hepatitis C Virus HCV Genotype
Identifies the specific strain (genotype) of the Hepatitis C virus (HCV) to guide effective treatment and monitor liver health. Confirm with the laboratory before booking.
FLT3 Gene Mutation Quantitative Monitor Test
Monitor treatment response in leukemia patients with the FLT3 Gene Mutation Quantitative Monitor Test. This test helps assess the presence and quantity of FLT3 gene mutations, guiding effective treatment strategies.
SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test
The SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test helps identify genetic mutations linked to Spinocerebellar Ataxia Type 6 (SCA6), a condition affecting coordination and balance. This test is important for diagnosing genetic ataxia disorders.
PAX6 Gene Aniridia Genetic Test
The PAX6 Gene Aniridia NGS Genetic DNA Test helps diagnose Aniridia, a genetic condition affecting the eye's iris. Using Next Generation Sequencing (NGS), this test analyzes the PAX6 gene to identify mutations linked to hereditary vision disorders. Recommended for individuals with symptoms or a family history of Aniridia.
NSDHL Gene CK Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the NSDHL gene associated with CK syndrome, a neurological disorder. Recommended for individuals with a family history or relevant symptoms.
HTT Gene Huntington Disease Genetic Test
Genetic test to detect mutations in the HTT gene associated with Huntington's disease, a progressive neurological disorder. Recommended for individuals with a family history.
NDUFAF3 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test for NDUFAF3 gene mutations linked to mitochondrial complex I deficiency, often causing neurological symptoms. Uses Next Generation Sequencing (NGS) technology.
Prickle1 Gene Progressive Myoclonus Epilepsy Type 1A Genetic Test
Genetic test to identify mutations in the PRICKLE1 gene associated with progressive myoclonus epilepsy type 1A. Helps diagnose neurological disorders and understand hereditary risks.
SCNN1A Gene Bronchiectasis with or Without Elevated Sweat Chloride Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SCNN1A gene for variations linked to bronchiectasis and related metabolic disorders. Helps identify genetic predispositions for early detection and management.
AKT2 Gene Hypoinsulinemic Hypoglycemia with Hemihypertrophy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AKT2 gene associated with hypoinsulinemic hypoglycemia and hemihypertrophy. Helps understand insulin regulation issues.
MSRB3 Gene Deafness Autosomal Recessive Type 74 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MSRB3 gene associated with autosomal recessive hearing loss. Suitable for individuals with a family history of deafness.
PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PHOX2A gene, aiding in the diagnosis of congenital fibrosis of extraocular muscles. Helps identify genetic predispositions and informs treatment decisions.
ITGAM Gene Systemic Lupus Erythematosus Susceptibility to Genetic Test
This genetic test analyzes the ITGAM gene to assess susceptibility to Systemic Lupus Erythematosus (SLE), an autoimmune condition. It uses Next Generation Sequencing (NGS) to identify genetic markers associated with SLE risk.
ELN Gene Supravalvar Aortic Stenosis Genetic Test
Genetic test to identify mutations in the ELN gene associated with supravalvar aortic stenosis, aiding in risk assessment and management.
AMHR2 Gene Persistent Mullerian Duct Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the AMHR2 gene associated with Persistent Mullerian Duct Syndrome (PMDS), a condition affecting reproductive health.
GHR Gene Growth Hormone Insensitivity Partial Genetic Test
Genetic test to identify mutations in the GHR gene associated with growth hormone insensitivity, aiding in the diagnosis and management of growth disorders in children.
TCOF1 Gene Treacher Collins Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TCOF1 gene, aiding in the diagnosis of Treacher Collins syndrome.
Cord Blood For Karyotyping
Cord Blood Karyotyping analyzes chromosomes from cord blood to detect genetic abnormalities in newborns. This test helps identify potential genetic disorders, aiding informed decision-making for expectant parents.
Sarcoma Gene Panel
The Sarcoma Gene Panel is a genetic test to identify mutations associated with sarcoma, a cancer of connective tissues. This test aids in diagnosis and treatment planning.
NPM1 Gene Fragment Analysis
The NPM1 Gene Fragment Analysis detects specific genetic mutations in the NPM1 gene, often associated with acute myeloid leukemia (AML). This test aids in diagnosis, treatment planning, and understanding prognosis for individuals with suspected or confirmed blood disorders.
SCA8 Spinocerebellar Ataxia ATXN8OS ATXN8 Gene Mutation Test
This genetic test checks for mutations in the ATXN8OS and ATXN8 genes associated with Spinocerebellar Ataxia Type 8 (SCA8), a neurological disorder affecting coordination and balance.
Cep290 Gene Bardet-Biedl Syndrome Type 14 Genetic Test
Genetic test to identify mutations in the CEP290 gene associated with Bardet-Biedl syndrome (BBS), a rare genetic disorder. Useful for individuals with a family history or symptoms of BBS.
PMP22 Gene CMT1A Genetic Test
The PMP22 Gene CMT1A NGS Genetic DNA Test helps diagnose Charcot-Marie-Tooth disease type 1A (CMT1A), a genetic disorder affecting peripheral nerves. This test uses Next Generation Sequencing (NGS) to analyze the PMP22 gene.
ZDHHC17 Gene Huntington Disease ZDHHC17 Related Genetic Test
The ZDHHC17 Gene Huntington Disease NGS Genetic DNA Test identifies genetic variations linked to Huntington's disease risk using advanced Next-Generation Sequencing (NGS) technology.
NDUFAF4 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the NDUFAF4 gene, associated with mitochondrial complex I deficiency and neurological disorders. Confirm with the laboratory before booking.
RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the RRM2B gene associated with Progressive External Ophthalmoplegia (PEO), a condition causing eye muscle weakness. Helps in diagnosis and management.
BCHE Gene Butyrylcholinesterase Deficiency Genetic Test
The BCHE Gene Butyrylcholinesterase Deficiency Genetic Test analyzes the BCHE gene to identify variations that may affect how your body processes certain medications and substances. This test is useful for individuals with a family history of metabolic disorders or those experiencing adverse reactions to specific drugs.
TRPM6 Gene Hypomagnesemia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TRPM6 gene associated with hypomagnesemia type 1, a condition causing low magnesium levels. Helps in diagnosis and management.
PNPT1 Gene Deafness Autosomal Recessive Type 70 Genetic Test
Genetic test to identify mutations in the PNPT1 gene associated with autosomal recessive deafness type 70. Helps understand genetic causes of hearing loss.
PORCN Gene Focal Dermal Hypoplasia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PORCN gene, aiding in the diagnosis of focal dermal hypoplasia. Confirm with the laboratory before booking.
DNASE1L3 Gene Systemic Lupus Erythematosus Type 16 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the DNASE1L3 gene for variations associated with an increased risk of developing Systemic Lupus Erythematosus (SLE).
CALCRL Gene Vascular System Defects Due to CALCRL Deficiency Genetic Test
This genetic test identifies mutations in the CALCRL gene, which can cause vascular system defects. It uses Next-Generation Sequencing (NGS) technology to analyze DNA.
CORIN Gene Preeclampsia/Eclampsia Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variants in the CORIN gene associated with an increased risk of preeclampsia. Helps inform prenatal care.
GLI3 Gene Greig Cephalopolysyndactyly Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GLI3 gene associated with Greig cephalopolysyndactyly syndrome. Helps diagnose the condition and understand hereditary patterns.
POLR1D Gene Treacher Collins Syndrome Type 2 Genetic Test
Genetic test for mutations in the POLR1D gene associated with Treacher Collins Syndrome Type 2, using Next Generation Sequencing (NGS) technology.
Criggler Najjar Syndrome
Genetic test to diagnose Criggler Najjar Syndrome, a rare disorder affecting bilirubin metabolism. Helps identify genetic mutations in the UGT1A1 gene for early management.
Ighm Gene Agammaglobulinemia Type 1 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the IGHM gene associated with Agammaglobulinemia Type 1, an autosomal recessive immunodeficiency disorder. Useful for individuals with a family history or symptoms of recurrent infections.
Noninvasive Prenatal Testing YesInGene
Noninvasive Prenatal Testing (NIPT) YesInGene is a safe blood test for pregnant individuals to screen for common chromosomal conditions in the baby, like Down syndrome, using advanced genetic technology.
CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy, a rare eye disorder. Helps in early diagnosis and management.
MPZ Gene CMT1B Genetic Test
Genetic test to identify mutations in the MPZ gene associated with Charcot-Marie-Tooth disease type 1B (CMT1B).
PRNP Gene Huntington Diseaselike Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the PRNP gene for mutations associated with Huntington disease-like neurological disorders.
NDUFAF5 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFAF5 gene, associated with mitochondrial complex I deficiency and neurological disorders. Helps in diagnosis and treatment planning.
KCTD7 Gene Progressive Myoclonus Epilepsy Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the KCTD7 gene, aiding in the diagnosis of Progressive Myoclonus Epilepsy Type 3. Confirm with the laboratory before booking.
CPS1 Gene Carbamoylphosphate Synthetase I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CPS1 gene associated with Carbamoylphosphate Synthetase I deficiency, a metabolic disorder affecting the urea cycle.
FXYD2 Gene Hypomagnesemia Type 2 Genetic Test
Genetic test to identify mutations in the FXYD2 gene, a cause of hypomagnesemia (low magnesium levels). Uses Next Generation Sequencing (NGS) technology.
Loxhd1 Gene Deafness Autosomal Recessive Type 77 Genetic Test
This genetic test analyzes the Loxhd1 gene to identify mutations associated with autosomal recessive deafness, a type of hearing loss. It uses Next-Generation Sequencing (NGS) technology.
SH3PXD2B Gene Frankter Haar Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SH3PXD2B gene associated with Frankter Haar syndrome. Confirm with the laboratory before booking.
GDF2 Gene Telangiectasia Hereditary Hemorrhagic Type 5 Genetic Test
Genetic test to identify mutations in the GDF2 gene associated with Hereditary Hemorrhagic Telangiectasia (HHT), a condition causing abnormal blood vessel formation.
F2 Gene Thrombophilia Due To Thrombin Defect Genetic Test
Genetic test to identify mutations in the F2 gene linked to thrombophilia (increased risk of blood clots). Helps understand predisposition to vascular diseases.
C4BPA Gene Pregnancy Loss Recurrent C4BPA Related Genetic Test
This genetic test analyzes the C4BPA gene to identify potential genetic factors associated with recurrent pregnancy loss, aiding couples in understanding risks and making informed decisions.
FTO Gene Growth Retardation Developmental Delay Facial Dysmorphism Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FTO gene for variations associated with growth retardation, developmental delays, and facial dysmorphism. Confirm with the laboratory before booking.
POLR1C Gene Treacher Collins Syndrome Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the POLR1C gene associated with Treacher Collins syndrome. Helps in diagnosis and family planning.
POLG Gene Alpers Syndrome Genetic Test
Genetic test to identify mutations in the POLG gene associated with Alpers syndrome, a serious neurological disorder. Helps in early diagnosis and management.
Peripheral Blood for High Resolution Single Karyotyping
Peripheral Blood for High Resolution Single Karyotyping is a genetic test that examines chromosomes for abnormalities, aiding in the diagnosis of genetic disorders. Recommended for individuals with family history or unexplained health issues.
Neuroviruses Panel Qualitative PCR Test
Detects multiple neuroviruses that can cause central nervous system infections using advanced PCR technology. Helps diagnose conditions causing neurological symptoms.
Best1 Gene Bestrophinopathy Genetic Test
The Best1 Gene Bestrophinopathy NGS Genetic DNA Test identifies mutations in the BEST1 gene linked to Bestrophinopathy, a genetic vision disorder. Utilizes Next-Generation Sequencing (NGS) for comprehensive analysis.
LITAF Gene CMT1C Genetic Test
The LITAF Gene CMT1C NGS Genetic DNA Test identifies genetic mutations in the LITAF gene associated with neurological disorders like Charcot-Marie-Tooth disease type 1C (CMT1C). This test uses Next Generation Sequencing (NGS) technology for accurate results.
JPH3 Gene Huntington Disease-Like Type 2 Genetic Test
Genetic test to identify mutations in the JPH3 gene associated with Huntington disease-like neurological disorders. Helps assess risk and inform health management.
NDUFB3 Gene Mitochondrial Complex I Deficiency Genetic Test
This genetic test identifies mutations in the NDUFB3 gene, which can cause mitochondrial complex I deficiency, a condition often linked to neurological disorders. Early diagnosis aids in management.
GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 Genetic Test
Genetic test to identify mutations in the GOSR2 gene associated with progressive myoclonus epilepsy. Helps in diagnosis and management.
CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency Genetic Test
Genetic test to identify mutations in the CPT1A gene, associated with Carnitine Palmitoyltransferase 1A deficiency, a metabolic disorder affecting fatty acid breakdown. Helps diagnose metabolic dysfunction.
CLDN16 Gene Hypomagnesemia Type 3 Genetic Test
Genetic test to identify mutations in the CLDN16 gene, associated with Hypomagnesemia Type 3, a condition affecting magnesium levels. Helps diagnose the genetic cause of low magnesium.
Syne4 Gene Deafness Autosomal Recessive Type 76 Genetic Test
Genetic test to identify mutations in the SYNE4 gene associated with autosomal recessive deafness. Utilizes Next Generation Sequencing (NGS) for accurate diagnosis of genetic hearing loss.
ADAMTSL2 Gene Geleophysic Dysplasia Type 1 Genetic Test
Genetic test to identify mutations in the ADAMTSL2 gene associated with Geleophysic Dysplasia Type 1, using Next-Generation Sequencing (NGS) technology.
FLNA Gene Terminal Osseous Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FLNA gene for mutations associated with terminal osseous dysplasia, a condition affecting bones and skin. Confirm with the laboratory before booking.
GNA13 Gene Vascular System Defects Due to GNA13 Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GNA13 gene associated with vascular system defects. Helps diagnose conditions related to GNA13 deficiency.
SYCP3 Gene SPGF4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SYCP3 gene, associated with reproductive disorders. Confirm with the laboratory before booking.
IGF1 Gene Growth Retardation with Deafness and Mental Retardation due to IGF1 Deficiency Genetic Test
This genetic test identifies mutations in the IGF1 gene associated with growth retardation, deafness, and mental retardation due to IGF1 deficiency. Utilizes Next Generation Sequencing (NGS) technology.
WNT7A Gene Ulna and Fibula Absence with Severe Limb Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the WNT7A gene, identifying mutations associated with ulna and fibula absence and severe limb deficiencies. Recommended for individuals with limb malformations or a family history of such conditions.
CXCR4 Gene Mutation Analysis
The CXCR4 Gene Mutation Analysis identifies mutations in the CXCR4 gene, which can be linked to conditions like HIV and certain cancers. This genetic test helps inform treatment and management strategies.
Alpha Thalassemia Gene Analysis HBA1 HBA2 Test
The Alpha Thalassemia Gene Analysis HBA1 HBA2 Test identifies genetic mutations in the HBA1 and HBA2 genes associated with alpha thalassemia, a blood disorder. This test aids in diagnosis and management.
Peripheral Blood for Karyotyping Single
A genetic test using a blood sample to examine chromosomes for abnormalities in structure or number. Helps identify potential genetic disorders.
FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis Genetic Test
This genetic test identifies mutations in the FOXL2 gene, associated with eye conditions like blepharophimosis, epicanthus inversus, and ptosis. It uses Next-Generation Sequencing (NGS) technology.
EGR2 Gene CMT1D Genetic Test
This genetic test identifies mutations in the EGR2 gene, which cause Charcot-Marie-Tooth disease type 1D (CMT1D), a neurological disorder affecting peripheral nerves. Early diagnosis aids in management.
ARX Gene Hydranencephaly with Abnormal Genitalia/Lissencephaly X-Linked 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ARX gene, helping identify potential causes of neurological disorders like hydranencephaly and lissencephaly. Recommended for individuals with relevant family history.
NDUFS1 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the NDUFS1 gene, associated with mitochondrial complex I deficiency and neurological disorders.
CERS1 Gene Progressive Myoclonus Epilepsy Type 8 Genetic Test
This genetic test identifies mutations in the CERS1 gene associated with Progressive Myoclonus Epilepsy Type 8 (PME8). It uses Next Generation Sequencing (NGS) technology to help diagnose this neurological disorder.
SLC22A5 Gene Carnitine Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the SLC22A5 gene associated with carnitine deficiency, a metabolic disorder. Helps diagnose and guide treatment.
EGF Gene Hypomagnesemia Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EGF gene associated with Hypomagnesemia Type 4, a condition causing low magnesium levels.
Tprn Gene Deafness Autosomal Recessive Type 79 Genetic Test
Genetic test to identify mutations in the Tprn gene associated with autosomal recessive deafness. Helps understand the genetic basis of hearing loss.
TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome Genetic Test
Genetic test to identify mutations in the TBXAS1 gene associated with Ghosal hematodiaphyseal syndrome, a rare condition affecting bones, skin, and the immune system.
ACVRL1 Gene Telangiectasia Hereditary Hemorrhagic Type 2 Genetic Test
Genetic test for mutations in the ACVRL1 gene associated with Hereditary Hemorrhagic Telangiectasia (HHT), a condition causing abnormal blood vessel formation. Helps in early detection and management.
Nephrology Panel Genetic Test
The Nephrology Panel NGS Genetic DNA Test uses next-generation sequencing to analyze genes linked to kidney disorders. It helps identify genetic risks for kidney diseases, enabling early diagnosis and personalized management.
AURKC Gene SPGF5 Genetic Test
The AURKC Gene SPGF5 NGS Genetic DNA Test identifies mutations in the AURKC gene linked to reproductive disorders, aiding in understanding fertility issues.
IRX5 Gene Hamamy Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the IRX5 gene, associated with Hamamy syndrome. Helps identify genetic predispositions and aids in early diagnosis.
FGFR1 Gene Trigonocephaly Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FGFR1 gene associated with trigonocephaly, a condition affecting skull bone fusion. Confirm with the laboratory before booking.
Cystic Fibrosis Mutation Screening (CFTR - Del 508)
This genetic test checks for the common Del 508 mutation in the CFTR gene, associated with Cystic Fibrosis. It helps identify individuals at risk or carriers of the condition.
Alpha Amino Adipic Aciduria Test
The Alpha Amino Adipic Aciduria Test helps identify metabolic disorders related to amino acid metabolism, particularly relevant for individuals with urological symptoms. Confirm with the laboratory before booking.
Peripheral Blood for Karyotyping Couple
Karyotyping for couples planning a family. This test examines chromosomes in peripheral blood samples to identify potential genetic abnormalities that could affect offspring. A doctor's prescription is required.
HLA Hypersensitivity to Abacavir B5701 Test
The HLA Hypersensitivity to Abacavir B5701 Test identifies genetic markers linked to severe allergic reactions to the HIV medication Abacavir. This test helps guide safer treatment choices for individuals with HIV.
Newborn Screening Panel 3 Test
The Newborn Screening Panel 3 Test checks for three key metabolic conditions in newborns: congenital hypothyroidism, G-6-PD deficiency, and congenital adrenal hyperplasia. Early detection allows for timely treatment.
UBE3B Gene Blepharophimosis-ptosis-Intellectual Disability Syndrome Genetic Test
Genetic test analyzing the UBE3B gene to identify mutations associated with blepharophimosis, ptosis, and intellectual disability syndrome. Uses Next-Generation Sequencing (NGS).
PMP22 Gene CMT1E Genetic Test
Genetic test to identify mutations in the PMP22 gene associated with Charcot-Marie-Tooth disease type 1E (CMT1E), a hereditary neurological disorder.
L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the L1CAM gene for mutations associated with hydrocephalus, aqueductal stenosis, and congenital intestinal pseudoobstruction.
NDUFS2 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFS2 gene, associated with mitochondrial complex I deficiency and neurological disorders. Helps in early diagnosis and management.
ZFHX4 Gene Ptosis Congenital Genetic Test
This genetic test analyzes the ZFHX4 gene to help diagnose congenital ptosis, a condition affecting eyelid function. It uses Next Generation Sequencing (NGS) technology.
CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency Genetic Test
Genetic test to identify mutations in the CPT1B gene, associated with carnitine palmitoyltransferase 1B deficiency, a metabolic disorder affecting fat metabolism. Confirm with the laboratory before booking.
CLDN19 Gene Hypomagnesemia Type 5 Genetic Test
Genetic test to identify mutations in the CLDN19 gene, a cause of hypomagnesemia (low magnesium levels). Helps diagnose the genetic basis for magnesium absorption issues.
TMPRSS3 Gene Deafness Autosomal Recessive Type 810 Genetic Test
This genetic test identifies mutations in the TMPRSS3 gene associated with autosomal recessive deafness, aiding in the diagnosis of genetic hearing loss.
Gorab Gene Geroderma Osteodysplasticum Genetic Test
Genetic test to identify mutations in the GORAB gene associated with Geroderma osteodysplasticum, a rare condition affecting skin and bones. This test aids in diagnosis and management.
THSD1 Gene Thrombospondin Type 1 Domain-Containing Protein 1 Genetic Test
The THSD1 Gene Thrombospondin Type 1 Domain-Containing Protein 1 NGS Genetic DNA Test uses Next-Generation Sequencing to identify mutations in the THSD1 gene, which can be linked to certain health conditions. This test provides valuable insights for individuals with a family history or symptoms related to these conditions.
Congenital Adrenal Hyperplasia Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations associated with Congenital Adrenal Hyperplasia (CAH), a group of inherited adrenal gland disorders.
SPATA16 Gene SPGF6 Genetic Test
The SPATA16 Gene SPGF6 NGS Genetic DNA Test analyzes the SPATA16 gene, which is linked to reproductive health. This test can help identify genetic factors related to fertility and pregnancy loss.
FGFR1 Gene Hartsfield Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FGFR1 gene, associated with Hartsfield syndrome. Helps diagnose genetic predispositions and informs family planning.
TBX3 Gene Ulnar-Mammary Syndrome Genetic Test
Genetic test to identify mutations in the TBX3 gene associated with Ulnar-Mammary syndrome, a condition affecting limb and breast development.
Cystic Fibrosis Mutation Screening CFTR Del 508 Prenatal
Prenatal genetic screening to detect the common CFTR Del 508 mutation associated with cystic fibrosis. Helps expectant parents understand the risk of CF in their child.
Prenatal Diagnostic Screening by Karyotyping
Prenatal Diagnostic Screening by Karyotyping analyzes fetal chromosomes to identify potential genetic abnormalities, offering crucial information for expectant mothers.
Newborn Screening Panel 4 Test
The Newborn Screening Panel 4 Test checks for four key metabolic conditions in newborns: TSH, G-6PD, 17-Hydroxyprogesterone, and Total Galactose. Early detection allows for timely intervention.
RLBP1 Gene Bothnia Retinal Dystrophy Genetic Test
Genetic test to identify mutations in the RLBP1 gene associated with retinal dystrophies, aiding in the diagnosis of hereditary vision impairment.
KIF1B Gene CMT2A1 Genetic Test
The KIF1B Gene CMT2A1 NGS Genetic DNA Test identifies mutations in the KIF1B gene associated with certain neurological disorders, like Charcot-Marie-Tooth disease. This test uses Next Generation Sequencing (NGS) technology to analyze DNA for genetic markers.
Ccdc88c Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1 Genetic Test
Genetic test to identify mutations in the CCDC88C gene associated with nonsyndromic hydrocephalus, a condition involving excess fluid in the brain. Recommended for individuals with a family history of neurological disorders.
NDUFS4 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFS4 gene, associated with Mitochondrial Complex I deficiency and neurological disorders. Uses Next Generation Sequencing (NGS).
TANC1 Gene Psychomotor Retardation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TANC1 gene for mutations associated with psychomotor retardation and other neurological disorders. Confirm with the laboratory before booking.
CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CPT2 gene, associated with Carnitine Palmitoyltransferase 2 Deficiency in infants. Helps identify metabolic disorders for early intervention.
CNNM2 Gene Hypomagnesemia Type 6 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CNNM2 gene, which can cause Hypomagnesemia Type 6, a condition characterized by low magnesium levels. This test helps diagnose the genetic basis of this metabolic disorder.
TBC1D24 Gene Deafness Autosomal Recessive Type 86 Genetic Test
This genetic test analyzes the TBC1D24 gene to identify mutations associated with autosomal recessive deafness. It uses Next Generation Sequencing (NGS) technology.
FAM111A Gene Gracile Bone Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FAM111A gene associated with Gracile bone dysplasia. Helps diagnose and understand genetic causes of bone health issues.
DLX3 Gene Trichodontoosseous Syndrome Genetic Test
Genetic test to identify mutations in the DLX3 gene associated with Trichodontoosseous Syndrome, a condition affecting bones, teeth, and skin. Confirm with the laboratory before booking.
HSD17B10 Gene 17beta Hydroxysteroid Dehydrogenase X Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the HSD17B10 gene, associated with metabolic disorders. Helps identify risks and guide treatment.
CATSPER1 Gene SPGF7 Genetic Test
The CATSPER1 Gene SPGF7 NGS Genetic DNA Test analyzes the CATSPER1 gene, important for male fertility. This test uses Next Generation Sequencing (NGS) to identify genetic factors potentially affecting sperm motility and reproductive health.
ADNP Gene Helsmoortelvan der Aa Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ADNP gene associated with Helsmoortelvan der Aa syndrome. Aids in diagnosing developmental delays and dysmorphic features.
LRIG2 Gene Urofacial Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the LRIG2 gene, associated with Urofacial Syndrome. Helps diagnose conditions involving facial and urinary system abnormalities.
Cystic Fibrosis Mutation Screening CFTR Del 508 G551D R553X G542X
This genetic test identifies specific mutations (Del 508, G551D, R553X, G542X) in the CFTR gene associated with cystic fibrosis. It helps in early diagnosis and family planning.
Prenatal Diagnostic Screening by Karyotyping FISH for 13 18 21 X and Y
Prenatal screening using Karyotyping and FISH to detect common chromosomal abnormalities (Trisomy 13, 18, 21) and sex chromosome issues (X, Y) in a developing fetus. This test provides important genetic information for expectant mothers.
Newborn Screening Panel 5 Test
The Newborn Screening Panel 5 Test helps detect five serious metabolic disorders in newborns, including hypothyroidism, G-6-PD deficiency, biotinidase deficiency, and phenylketonuria. Early detection allows for timely intervention.
RGS9 Gene Bradyopsia Genetic Test
The RGS9 Gene Bradyopsia NGS Genetic DNA Test helps identify genetic mutations linked to bradyopsia, a condition affecting vision in low light. This test uses advanced sequencing technology to analyze the RGS9 gene.
MFN2 Gene CMT2A2 Genetic Test
The MFN2 Gene CMT2A2 NGS Genetic DNA Test identifies mutations in the MFN2 gene associated with Charcot-Marie-Tooth disease type 2A2 (CMT2A2), a hereditary neuropathy. This test uses Next Generation Sequencing (NGS) technology to help diagnose neurological disorders and inform management.
GLRA1 Gene Hyperekplexia Genetic Test
Genetic test to identify mutations in the GLRA1 gene, associated with hyperekplexia, a neurological disorder causing exaggerated startle responses. Utilizes Next Generation Sequencing (NGS) technology.
NDUFS6 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NDUFS6 gene, associated with mitochondrial complex I deficiency and neurological disorders.
ALDH7A1 Gene Pyridoxine-Dependent Epilepsy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ALDH7A1 gene, associated with pyridoxine-dependent epilepsy. Aids in diagnosing neurological disorders.
CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CPT2 gene, aiding in the diagnosis of Carnitine Palmitoyltransferase 2 deficiency in newborns. Early detection supports timely intervention.
ALPL Gene Hypophosphatasia Adult Genetic Test
Genetic test to identify mutations in the ALPL gene associated with Hypophosphatasia, a metabolic disorder affecting bone mineralization in adults.
KARS1 Gene Deafness Autosomal Recessive Type 89 Genetic Test
Genetic test to identify mutations in the KARS1 gene associated with autosomal recessive deafness type 89. Helps diagnose hereditary hearing loss.
ANO5 Gene Gnathodiaphyseal Dysplasia Genetic Test
Genetic test to identify mutations in the ANO5 gene associated with gnathodiaphyseal dysplasia, a condition affecting skeletal development, particularly the jaw and face.
TTC37 Gene Trichohepatoenteric Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the TTC37 gene associated with Trichohepatoenteric Syndrome Type 1. Helps diagnose the condition and guide management.
CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CYP11A1 gene, aiding in the diagnosis of congenital adrenal insufficiency and related conditions like 46XY sex reversal. Recommended for individuals with symptoms or family history.
NR5A1 Gene SPGF8 Genetic Test
The NR5A1 Gene SPGF8 NGS Genetic DNA Test identifies genetic variations in the NR5A1 gene associated with reproductive disorders. This test uses advanced Next-Generation Sequencing (NGS) technology.
FAT4 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the FAT4 gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2. Aids in diagnosis and management for individuals with symptoms or family history.
SCARF2 Gene Van den Ende-Gupta Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SCARF2 gene associated with Van den Ende-Gupta syndrome. Helps in diagnosis and family planning.
Cytochrome P450 2C19 Genotyping
Understand how your body processes Clopidogrel with the Cytochrome P450 2C19 Genotyping test. This genetic test identifies variations affecting drug metabolism, helping guide personalized treatment for cardiovascular conditions.
Liquid Biopsy Colon Cancer Test
A non-invasive blood test to detect genetic markers associated with colon cancer, aiding in early detection and monitoring. Confirm with the laboratory before booking.
Prenatal Hemophilia A Common Mutation Screening Factor VIII Intron 22 and Intron 1 Inversion Analysis
Prenatal screening for common Hemophilia A mutations (Factor VIII Intron 22 and Intron 1 inversions) to assess risk in the unborn child. Helps expectant parents make informed decisions.
Newborn Screening Panel 8 Test
The Newborn Screening Panel 8 Test checks newborns for several inborn errors of metabolism. Early detection allows for timely intervention and improved health outcomes.
SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the SIX5 gene for mutations associated with Branchiootorenal Syndrome Type 2. Helps diagnose genetic disorders and understand hereditary risks.
RAB7A Gene CMT2B Genetic Test
Genetic test to identify mutations in the RAB7A gene associated with Charcot-Marie-Tooth disease type 2B (CMT2B), a neurological disorder causing muscle weakness and sensory loss.
MPDZ Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 2 Genetic Test
Genetic test to identify mutations in the MPDZ gene associated with nonsyndromic hydrocephalus, using Next Generation Sequencing (NGS).
NDUFV1 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFV1 gene, associated with mitochondrial complex I deficiency and neurological disorders.
PC Gene Pyruvate Carboxylase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PC gene associated with pyruvate carboxylase deficiency, a rare condition linked to neurological disorders. Confirm with the laboratory before booking.
COMT Gene Catecholomethyltransferase Deficiency Genetic Test
Genetic test to identify variations in the COMT gene, which can be linked to metabolic disorders affecting neurotransmitter processing. Helps understand potential health risks and inform treatment.
ALPL Gene Hypophosphatasia Childhood Genetic Test
Genetic test for children to detect mutations in the ALPL gene associated with hypophosphatasia, a rare metabolic bone disorder. Utilizes Next-Generation Sequencing (NGS) technology.
Otof Gene Deafness Autosomal Recessive Type 9 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the OTOF gene associated with autosomal recessive deafness. Helps diagnose genetic hearing loss.
NCF1 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type 1 Genetic Test
Genetic test to identify mutations in the NCF1 gene associated with chronic granulomatous disease (CGD), aiding in diagnosis and management.
TRPS1 Gene Trichorhinophalangeal Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TRPS1 gene for diagnosing Trichorhinophalangeal syndrome type 1.
GPR101 Gene Acromegaly Predisposition Due to Germline GPR101 Mutation Genetic Test
The GPR101 Gene Acromegaly Predisposition Test identifies genetic mutations linked to an increased risk of developing acromegaly. This test uses advanced DNA sequencing to detect variations in the GPR101 gene.
Dpy19l2 Gene Spgf9 Genetic Test
The Dpy19l2 Gene Spgf9 Ngs Genetic DNA Test identifies genetic mutations linked to reproductive disorders using Next-Generation Sequencing (NGS). This test helps individuals understand genetic predispositions for informed reproductive health decisions.
ZIC3 Gene Heterotaxy Visceral Type 1 Genetic Test
Genetic test to identify mutations in the ZIC3 gene associated with heterotaxy syndrome, a condition involving abnormal organ arrangement. Utilizes Next Generation Sequencing (NGS) technology.
HPSE2 Gene Urofacial Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HPSE2 gene, associated with Urofacial Syndrome. Helps in diagnosis and family planning.
Cystic Fibrosis CFTR Full Gene Sequence Analysis
Identifies mutations in the CFTR gene associated with cystic fibrosis, aiding in early diagnosis and management.
The Noninvasive Prenatal NIPT Twins Test
A noninvasive screening test for expectant mothers carrying twins to assess the risk of common chromosomal abnormalities like Down syndrome (Trisomy 21), Trisomy 18, and Trisomy 13. This test analyzes cell-free fetal DNA from the mother's blood.
Review of 1015 Slide and
A specialized histopathology test to evaluate genetic disorders and abnormalities in tissue samples, using previously prepared slides and blocks.
Fragile X FMR1 Carrier Test
The Fragile X FMR1 Carrier Test identifies individuals carrying a mutation in the FMR1 gene associated with Fragile X syndrome. Recommended for family planning and those with a family history.
Newborn Screening Panel Basic Test
The Newborn Screening Panel Basic Test helps detect certain metabolic disorders in newborns early. It measures TSH, 17-Hydroxyprogesterone, G6PD, and Hemoglobinopathy, enabling timely intervention for better health outcomes.
EYA1 Gene Branchiootorenal Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the EYA1 gene associated with Branchiootorenal Syndrome Type 1. Helps identify genetic risks and inform management.
LMNA Gene CMT2B1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the LMNA gene associated with Charcot-Marie-Tooth disease type 2B1 (CMT2B1), a hereditary neurological disorder.
GLRB Gene Hyperekplexia Genetic Test
Genetic test to identify mutations in the GLRB gene associated with hyperekplexia, a neurological disorder causing exaggerated startle responses. Uses Next-Generation Sequencing (NGS).
NDUFV2 Gene Mitochondrial Complex I Deficiency Genetic Test
Genetic test to identify mutations in the NDUFV2 gene, associated with mitochondrial complex I deficiency and neurological symptoms. Utilises Next-Generation Sequencing (NGS).
CLCN4 Gene Raynaud-Claes Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CLCN4 gene for variations associated with Raynaud-Claes syndrome, a neurological disorder. Helps identify genetic predispositions and aids in diagnosis.
SLC25A20 Gene Carnitine-Acylcarnitine Translocase Deficiency Genetic Test
Genetic test to identify mutations in the SLC25A20 gene, associated with carnitine-acylcarnitine translocase deficiency, a metabolic disorder. Helps diagnose and inform treatment.
ALPL Gene Hypophosphatasia Infantile Genetic Test
This genetic test identifies mutations in the ALPL gene, helping diagnose Hypophosphatasia, a rare metabolic disorder affecting bone development in infants. Early diagnosis supports timely management.
Serpinb6 Gene Deafness Autosomal Recessive Type 91 Genetic Test
Genetic test to identify mutations in the SERPINB6 gene associated with autosomal recessive deafness, aiding in the diagnosis of genetic hearing loss.
NCF2 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NCF2 gene associated with chronic granulomatous diseases. Helps diagnose genetic predispositions to these conditions.
SKIV2L Gene Trichohepatoenteric Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SKIV2L gene associated with Trichohepatoenteric syndrome type 2. Helps in diagnosing and managing this rare genetic disorder.
TBX19 Gene Adrenocorticotropic Hormone Deficiency Genetic Test
This genetic test identifies mutations in the TBX19 gene associated with Adrenocorticotropic Hormone (ACTH) deficiency using Next-Generation Sequencing (NGS). It helps understand genetic predispositions to hormone deficiencies.
GATA4 Gene Testicular Anomalies With or Without Congenital Heart Disease Genetic Test
Genetic test analyzing the GATA4 gene to identify mutations associated with testicular anomalies and/or congenital heart disease. Helps understand potential genetic causes and risks.
CFC1 Gene Heterotaxy Visceral Type 2 Genetic Test
Genetic test to identify mutations in the CFC1 gene associated with heterotaxy, a condition involving abnormal organ arrangement. Uses Next-Generation Sequencing (NGS) technology.
IRF6 Gene Van Der Woude Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the IRF6 gene associated with Van Der Woude syndrome, a condition often involving cleft lip and/or palate. Useful for diagnosis and family planning.
Cytochrome P450 2D6 Genotyping CYP2D6 Alleles
The Cytochrome P450 2D6 Genotyping test analyzes variations in the CYP2D6 gene to understand how your body metabolizes certain medications. This can help personalize treatment and reduce adverse drug reactions.
Sickle Cell Mutation Screening Prenatal
Prenatal screening to assess the risk of sickle cell disease in an unborn child using advanced genetic analysis.
Fragile X Tremor Ataxia Syndrome FXTAS Test
The Fragile X Tremor Ataxia Syndrome (FXTAS) Test identifies FMR1 CGG repeats, helping to assess the risk for this neurological disorder. Early detection aids in management.
Newborn Screening Panel Comprehensive Test
Comprehensive newborn screening to detect metabolic and genetic disorders early. This test screens for 50 conditions, including G6PD Deficiency, Cystic Fibrosis, and Thyroid issues, allowing for timely intervention.
ZNF469 Gene Brittle Cornea Syndrome Genetic Test
This genetic test analyzes the ZNF469 gene to identify mutations associated with brittle cornea syndrome, a condition affecting corneal health. Early detection aids in management.
MED25 Gene CMT2B2 Genetic Test
The MED25 Gene CMT2B2 NGS Genetic DNA Test identifies genetic variations in the MED25 gene linked to neurological disorders like Charcot-Marie-Tooth disease. This test uses Next-Generation Sequencing (NGS) technology to provide insights for diagnosis and management.
SLC6A5 Gene Hyperekplexia Genetic Test
This genetic test identifies mutations in the SLC6A5 gene associated with hyperekplexia, a neurological disorder causing exaggerated startle responses. It uses Next Generation Sequencing (NGS) for accurate results.
Mttn Gene Mitochondrial Complex I Deficiency Mttn Related Genetic Test
Genetic test to identify mutations in the MTTN gene associated with mitochondrial complex I deficiency, a cause of neurological disorders. Utilizes Next-Generation Sequencing (NGS) technology.
PQBP1 Gene Renpenning Syndrome Genetic Test
Genetic test for mutations in the PQBP1 gene associated with Renpenning syndrome, a rare neurological disorder. Helps in diagnosis and family planning.
PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PPT1 gene associated with Ceroid Lipofuscinosis Neuronal Type 1 (CLN1), a rare metabolic disorder. Helps in early diagnosis and management.
Fgf23 Gene Hypophosphatemic Rickets Autosomal Dominant Genetic Test
Genetic test for mutations in the FGF23 gene associated with hypophosphatemic rickets, a disorder affecting phosphate metabolism. Uses Next-Generation Sequencing (NGS).
Fgf3 Gene Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia Genetic Test
Genetic test to identify mutations in the FGF3 gene associated with congenital deafness, inner ear agenesis, microtia, and microdontia.
CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Negative Genetic Test
Genetic test for mutations in the CYBA gene associated with chronic granulomatous disease (CGD), an immune deficiency disorder. Helps identify genetic predisposition and aids in diagnosis.
ERCC2 Gene Trichothiodystrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ERCC2 gene associated with Trichothiodystrophy, a rare disorder affecting hair, skin, and development.
AR Gene Androgen Insensitivity Genetic Test
This genetic test analyzes the AR gene to help diagnose Androgen Insensitivity Syndrome (AIS), a condition affecting sexual development. It uses Next-Generation Sequencing (NGS) technology.
Blood Coagulation Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify inherited predispositions to blood coagulation disorders. Suitable for individuals with a family history of clotting issues.
NODAL Gene Heterotaxy Visceral Type 5 Genetic Test
Genetic test analyzing the NODAL gene for mutations associated with heterotaxy syndrome. Helps understand potential health risks and guides medical decisions.
GRHL3 Gene Van Der Woude Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GRHL3 gene associated with Van Der Woude syndrome, characterized by cleft lip/palate and other anomalies. Helps in diagnosis, management, and family planning.
Molecular Karyotyping for Amniotic Fluid Test
Molecular Karyotyping for Amniotic Fluid Test is an advanced genetic test for expectant mothers to detect chromosomal abnormalities in the fetus. Provides crucial information for informed pregnancy decisions.
Williams Syndrome Karyotyping FISH
A genetic test using FISH and karyotyping to detect Williams syndrome, a rare disorder associated with developmental delays and distinct facial features. Confirm with the laboratory before booking.
Newborn Screening Panel Extended Test
The Newborn Screening Panel Extended Test identifies potential metabolic disorders in newborns shortly after birth, enabling timely intervention for better health outcomes.
PITX3 Gene Cataract 11 Multiple Types Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PITX3 gene associated with various types of cataracts. Helps understand genetic risk factors for eye health.
TRPV4 Gene CMT2C Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TRPV4 gene, associated with Charcot-Marie-Tooth disease type 2C (CMT2C), a hereditary neurological disorder.
ARHGEF9 Gene Hyperekplexia EIEE8 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ARHGEF9 gene, associated with hyperekplexia (EIEE8), a neurological disorder. Helps diagnose the cause of exaggerated startle responses and muscle stiffness.
SDHAF1 Gene Mitochondrial Complex II Deficiency Genetic Test
Genetic test to identify mutations in the SDHAF1 gene, associated with mitochondrial complex II deficiency and neurological disorders. Utilizes Next Generation Sequencing (NGS) for accurate diagnosis.
MECP2 Gene Rett Syndrome Preserved Speech Variant Genetic Test
Genetic test analyzing the MECP2 gene to help diagnose Rett syndrome, particularly the preserved speech variant, using Next Generation Sequencing (NGS).
CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 Genetic Test
Genetic test to identify mutations in the CTSD gene associated with Ceroid Lipofuscinosis Neuronal Type 10 (CLN10), a rare metabolic disorder. Helps in diagnosis and management.
SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test
Genetic test to identify mutations in the SLC34A3 gene associated with hypophosphatemic rickets and hypercalciuria, aiding in the diagnosis of related metabolic disorders.
CABP2 Gene Deafness Autosomal Recessive Type 93 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CABP2 gene associated with autosomal recessive deafness. Helps diagnose genetic causes of hearing loss.
NCF4 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Positive Type 3 Genetic Test
Genetic test analyzing the NCF4 gene to identify mutations associated with chronic granulomatous disease (CGD), an immune system disorder. Uses Next-Generation Sequencing (NGS) technology.
ERCC3 Gene Trichothiodystrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ERCC3 gene for mutations associated with Trichothiodystrophy.
AR Gene Androgen Insensitivity Partial With Or Without Breast Cancer Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to analyze the AR gene, identifying potential risks for androgen insensitivity syndrome and associated breast cancer. It helps individuals understand their genetic predispositions for proactive health management.
Bone Marrow Failure Anemia Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations linked to bone marrow failure and anemia. Recommended for individuals with unexplained anemia or a family history of blood disorders.
ACVR2B Gene Heterotaxy Visceral Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ACVR2B gene, associated with visceral heterotaxy and related developmental conditions. Confirm with the laboratory before booking.
FAT4 Gene Van Maldergem Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the FAT4 gene associated with Van Maldergem Syndrome Type 2, a rare condition causing physical anomalies and developmental issues.
Targeted Mutation Analysis More Than 2 Mutations
A genetic test to identify more than two specific mutations linked to hereditary disorders. Useful for individuals with a family history or unexplained symptoms.
Newborn Screening Panel NBS Quad Test
The Newborn Screening Panel NBS Quad Test screens newborns for four critical metabolic disorders: congenital hypothyroidism, congenital adrenal hyperplasia, phenylketonuria (PKU), and galactosemia. Early detection allows for timely treatment and improved health outcomes.
Crybb1 Gene Cataract Type 17 Multiple Types Genetic Test
Genetic test to identify mutations in the Crybb1 gene associated with various types of cataracts, aiding in understanding predisposition and guiding eye health management.
GARS1 Gene CMT2D Genetic Test
The GARS1 Gene CMT2D NGS Genetic DNA Test identifies mutations in the GARS1 gene associated with Charcot-Marie-Tooth disease type 2D (CMT2D), a neurological disorder. This test uses Next Generation Sequencing (NGS) technology for accurate genetic analysis.
SCN4A Gene Hyperkalemic Periodic Paralysis Genetic Test
Genetic test for mutations in the SCN4A gene associated with Hyperkalemic Periodic Paralysis, a condition causing episodes of muscle weakness or paralysis.
SDHD Gene Mitochondrial Complex II Deficiency Genetic Test
Genetic test to identify mutations in the SDHD gene associated with mitochondrial complex II deficiency and related neurological disorders.
Selenon Gene Rigid Spine Muscular Dystrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SELENON gene associated with rigid spine muscular dystrophy. Helps diagnose genetic predispositions to this neurological disorder.
GRN Gene Ceroid Lipofuscinosis Neuronal Type 11 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GRN gene associated with neuronal ceroid lipofuscinosis neuronal type 11 (NCL11). Recommended for individuals with a family history or symptoms of this metabolic disorder.
SLC22A12 Gene Hypouricemia Renal Type 1 Genetic Test
Genetic test to identify mutations in the SLC22A12 gene associated with renal hypouricemia, a condition affecting uric acid transport in the kidneys.
BCAP31 Gene Deafness Dystonia and Cerebral Hypomyelination Xlinked Genetic Test
This genetic test identifies mutations in the BCAP31 gene linked to hearing loss, dystonia, and cerebral hypomyelination. It uses Next Generation Sequencing (NGS) for accurate analysis.
CYBB Gene Granulomatous Disease Chronic Xlinked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CYBB gene, associated with X-linked chronic granulomatous disease (CGD). Helps diagnose CGD and guide treatment.
GTF2H5 Gene Trichothiodystrophy Genetic Test
Genetic test to identify mutations in the GTF2H5 gene, associated with trichothiodystrophy, a rare disorder affecting hair, skin, and development. Uses Next Generation Sequencing (NGS) technology.
BBS1 Gene Bardet-Biedl Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the BBS1 gene for mutations associated with Bardet-Biedl syndrome (BBS). Helps identify genetic predispositions to conditions affecting kidney, liver, and endocrine functions.
MDM2 Gene Accelerated Tumor Formation Susceptibility to Genetic Test
Assess your genetic predisposition to tumor formation with the MDM2 Gene Accelerated Tumor Formation Susceptibility test using advanced NGS technology. Understand your risks and enable proactive healthcare decisions.
CFAP53 Gene Heterotaxy Visceral Type 6 Genetic Test
Genetic test to identify mutations in the CFAP53 gene associated with Heterotaxy, a condition involving abnormal organ arrangement. Useful for individuals with a family history of dysmorphology.
Epg5 Gene Vici Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the EPG5 gene associated with Vici syndrome. Helps diagnose EPG5-related disorders, characterized by dysmorphology, immunodeficiency, and neurological issues.
Adenovirus RNA Detection Qualitative Test
Detects the presence of adenovirus RNA to diagnose active adenoviral infections, which can cause respiratory illness, gastroenteritis, and other conditions. Results provided via email.
Newborn Screening Panel 7 Test
Essential newborn screening to detect serious metabolic disorders early. Helps ensure timely intervention for conditions like G6PD deficiency and cystic fibrosis.
CRYBA4 Gene Cataract Type 23 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CRYBA4 gene associated with an increased risk of developing cataracts. Suitable for individuals with a family history of cataracts.
HSPB1 Gene CMT2F Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the HSPB1 gene associated with Charcot-Marie-Tooth disease type 2F (CMT2F), a hereditary neuropathy.
GCH1 Gene Hyperphenylalaninemia BH4deficient B Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the GCH1 gene for mutations causing BH4 deficiency, a condition affecting phenylalanine metabolism and potentially leading to neurological issues.
UQCRB Gene Mitochondrial Complex III Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the UQCRB gene, associated with mitochondrial complex III deficiency and neurological disorders. Confirm with the laboratory before booking.
CAV3 Gene Rippling Muscle Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CAV3 gene associated with rippling muscle disease. Aids in diagnosis and management.
TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 Genetic Test
Genetic test to identify mutations in the TPP1 gene associated with Ceroid Lipofuscinosis Neuronal Type 2 (CLN2), a rare metabolic disorder.
IGF1R Gene Insulinlike Growth Factor Resistance Genetic Test
Genetic test to identify variations in the IGF1R gene associated with insulin-like growth factor resistance and metabolic disorders.
MTRNR1 Gene Deafness Nonsyndromic Sensorineural Mitochondrial Genetic Test
This genetic test analyzes the MTRNR1 gene to help identify the genetic cause of nonsyndromic sensorineural hearing loss. It uses Next-Generation Sequencing (NGS) technology.
LBR Gene Greenberg Skeletal Dysplasia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the LBR gene for mutations associated with skeletal dysplasia. Useful for diagnosis and family planning.
MPLKIP Gene Trichothiodystrophy Nonphotosensitive Type 1 Genetic Test
Genetic test to identify mutations in the MPLKIP gene associated with Trichothiodystrophy, Nonphotosensitive Type 1. Utilizes Next-Generation Sequencing (NGS) for accurate diagnosis.
TRIM32 Gene Bardet-Biedl Syndrome Type 11 Genetic Test
Genetic test to identify mutations in the TRIM32 gene associated with Bardet-Biedl syndrome (BBS). Helps in early detection and management of this hereditary condition.
FGA Gene Afibrinogenemia Congenital Genetic Test
Genetic test to identify mutations in the FGA gene associated with congenital afibrinogenemia, a rare bleeding disorder. Uses Next Generation Sequencing (NGS) technology.
MMP21 Gene Heterotaxy Visceral Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the MMP21 gene, aiding in the diagnosis of conditions associated with visceral heterotaxy. Recommended for individuals with dysmorphology symptoms or a family history of related disorders.
ACTG2 Gene Visceral Myopathy Genetic Test
The ACTG2 Gene Visceral Myopathy NGS Genetic DNA Test analyzes the ACTG2 gene to identify mutations linked to visceral myopathy, a condition affecting muscle function. This test uses next-generation sequencing (NGS) technology for accurate results.
Cytomegalovirus CMV Qualitative PCR
Detects the presence of Cytomegalovirus (CMV) DNA in bodily fluids like blood, plasma, serum, amniotic fluid, or cord blood. Essential for pregnant women, immunocompromised individuals, and newborns.
WFS1 Gene Cataract Type 41 Genetic Test
Genetic test to identify mutations in the WFS1 gene associated with Cataract Type 41. Helps understand genetic risk, especially with a family history.
MPZ Gene CMT2I Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MPZ gene associated with Charcot-Marie-Tooth disease type 2I (CMT2I).
CACNA1S Gene Hypokalemic Periodic Paralysis Type 1 Genetic Test
Genetic test for Hypokalemic Periodic Paralysis Type 1 (HypoPP1) caused by mutations in the CACNA1S gene. Uses Next-Generation Sequencing (NGS) to identify genetic variations associated with this neurological disorder.
BCS1L Gene Mitochondrial Complex III Deficiency Genetic Test
Genetic test to identify mutations in the BCS1L gene, associated with mitochondrial complex III deficiency and neurological disorders. Uses Next-Generation Sequencing (NGS) technology.
SRPX2 Gene Rolandic Epilepsy Mental Retardation and Speech Dyspraxia Genetic Test
The SRPX2 Gene test analyzes the SRPX2 gene using Next-Generation Sequencing (NGS) to identify genetic variations associated with Rolandic epilepsy, mental retardation, and speech dyspraxia. This test can help understand the underlying causes of these neurological conditions.
CLN3 Gene Ceroid Lipofuscinosis Neuronal Type 3 Genetic Test
Genetic test to identify mutations in the CLN3 gene associated with Ceroid Lipofuscinosis Neuronal Type 3 (CLN3), a form of Batten disease. This test aids in diagnosing this rare neurological disorder.
SLC2A9 Gene Hypouricemia Renal Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SLC2A9 gene associated with renal type 2 hypouricemia, a metabolic disorder affecting uric acid levels.
PRPS1 Gene Deafness Xlinked Type 1 Genetic Test
Genetic test to identify mutations in the PRPS1 gene associated with X-linked deafness, particularly relevant for individuals with a family history of hearing loss.
MYO5A Gene Griscelli Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MYO5A gene associated with Griscelli syndrome type 1, a rare genetic disorder.
TUFT1 Gene Tuftelin Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TUFT1 gene associated with tuftelin deficiency, which can cause osteology, dermatology, and immunology disorders.
BBS10 Gene Bardet-Biedl Syndrome Type 10 Genetic Test
Genetic test to identify mutations in the BBS10 gene associated with Bardet-Biedl syndrome (BBS), a rare genetic disorder. Helps diagnose the condition and guide management.
PKLR Gene Adenosine Triphosphate Elevated of Erythrocytes Genetic Test
Genetic test analyzing the PKLR gene to identify variations linked to elevated adenosine triphosphate levels in red blood cells, aiding in the diagnosis of conditions like hemolytic anemia.
PKD1L1 Gene Heterotaxy Visceral Type 8 Autosomal Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PKD1L1 gene, associated with visceral heterotaxy and organ development issues. Useful for diagnosing genetic conditions linked to dysmorphology.
Hoxd13 Gene Vater Association Genetic Test
The Hoxd13 Gene Vater Association NGS Genetic DNA Test uses Next Generation Sequencing (NGS) to identify genetic mutations in the Hoxd13 gene, which can be associated with dysmorphology and developmental disorders. Confirm with the laboratory before booking.
Deafness Gene Panel
The Deafness Gene Panel is a genetic test to identify mutations linked to hearing loss, aiding in diagnosis and management.
Chocolo Virus Viral Load Quantitative Test
The Chocolo Virus Viral Load Quantitative Test measures the amount of Chocolo virus in the body, aiding in the management of viral infections. This test uses Real Time PCR for accurate results.
UNC45B Gene Cataract Type 43 Genetic Test
This genetic test identifies mutations in the UNC45B gene linked to cataract development. It's recommended for individuals with a family history of cataracts or early onset symptoms.
GDAP1 Gene CMT2K Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the GDAP1 gene, associated with Charcot-Marie-Tooth disease (CMT2K), a hereditary neurological disorder. Helps identify genetic mutations for early intervention and personalized treatment.
GNE Gene Inclusion Body Myopathy Genetic Test
Genetic test to identify mutations in the GNE gene associated with Inclusion Body Myopathy (IBM), a rare muscle disorder. Helps confirm diagnosis and guide management.
UQCRC2 Gene Mitochondrial Complex III Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the UQCRC2 gene, associated with mitochondrial complex III deficiency. Helps diagnose mitochondrial disorders causing neurological symptoms.
RUBCN Gene Salih Ataxia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RUBCN gene associated with Salih ataxia, a neurological disorder. Recommended for individuals with relevant symptoms or family history.
DNAJC5 Gene Ceroid Lipofuscinosis Neuronal Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DNAJC5 gene associated with neuronal ceroid lipofuscinosis type 4 (NCL4), a progressive neurological disorder. Helps in diagnosis and management.
ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ACAD8 gene, associated with Isobutyryl-CoA dehydrogenase deficiency, a rare metabolic disorder.
SMPX Gene Deafness Xlinked Type 4 Genetic Test
This genetic test identifies mutations in the SMPX gene associated with X-linked deafness, providing insights for individuals with a family history of hearing loss.
MlpH Gene Griscelli Syndrome Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MLPH gene associated with Griscelli syndrome type 3, an immunological disorder. Confirm with the laboratory before booking.
RHBDF2 Gene Tylosis with Esophageal Cancer Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RHBDF2 gene associated with Tylosis and an increased risk of esophageal cancer. Recommended for individuals with a family history of esophageal cancer.
BBS12 Gene Bardet-Biedl Syndrome Type 12 Genetic Test
Genetic test to identify mutations in the BBS12 gene associated with Bardet-Biedl Syndrome (BBS), a rare genetic disorder. Helps in diagnosis and management.
FGB Gene Afibrinogenemia Congenital Genetic Test
The FGB Gene Afibrinogenemia Congenital NGS Genetic DNA Test identifies genetic mutations linked to afibrinogenemia, a rare bleeding disorder. Using Next Generation Sequencing (NGS), this test analyzes the FGB gene to assess blood coagulation protein production.
BCL9L Gene Heterotaxy Visceral BCL9L Related Genetic Test
This genetic test identifies variations in the BCL9L gene, which are linked to heterotaxy syndromes, conditions involving abnormal organ arrangement. It uses Next Generation Sequencing (NGS) technology.
RAB3GAP2 Gene Warburg Micro Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the RAB3GAP2 gene associated with Warburg Micro Syndrome Type 2. Helps in diagnosing and managing this rare condition.
Solid Tumor Combo2 MSI NRAS KRAS BRAF H RAS
A comprehensive genetic test analyzing MSI, NRAS, KRAS, BRAF, and H RAS mutations in solid tumor tissue to guide cancer treatment decisions.
Immunophenotyping by Flow Cytometry Leukemia Diagnostic Comprehensive Profile Any 6 Markers Test
This test uses flow cytometry to analyze blood or bone marrow, helping to diagnose and classify leukemia by identifying specific cell markers. It is essential for guiding treatment decisions.
Crybb3 Gene Cataract Autosomal Recessive Congenital Nuclear Type 2 Genetic Test
Genetic test to identify mutations in the CRYBB3 gene associated with autosomal recessive congenital nuclear cataracts. Helps understand hereditary cataracts.
MPZ Gene CMT2J Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MPZ gene associated with Charcot-Marie-Tooth disease type 2J (CMT2J).
DARS Gene Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DARS gene, associated with hypomyelination and neurological disorders like brainstem/spinal cord involvement and leg spasticity.
UQCRQ Gene Mitochondrial Complex III Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the UQCRQ gene for mutations linked to mitochondrial complex III deficiency, often associated with neurological disorders.
PMP22 Gene Roussy-Levy Syndrome Genetic Test
Genetic test to identify mutations in the PMP22 gene associated with Roussy-Levy syndrome, a rare neurological disorder. Helps diagnose conditions involving muscle weakness and sensory loss.
CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 Genetic Test
Genetic test to identify mutations in the CLN5 gene associated with neuronal ceroid lipofuscinosis, a rare metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
Ivd Gene Isovaleric Acidemia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the IVD gene associated with Isovaleric Acidemia, a rare metabolic disorder. Helps in diagnosis and management.
POU3F4 Gene Deafness Xlinked Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the POU3F4 gene associated with X-linked deafness. Helps understand genetic causes of hearing loss.
CD59 Gene Hemolytic Anemia CD59-Mediated with or without Immune-Mediated Polyneuropathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CD59 gene associated with hemolytic anemia and immune-mediated polyneuropathy. Helps diagnose genetic causes of these conditions.
ERCC6 Gene UV-Sensitive Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ERCC6 gene for mutations associated with UV-Sensitive Syndrome Type 1. Helps identify predisposition to UV-related disorders.
MKS1 Gene Bardet-Biedl Syndrome Type 13 Genetic Test
The MKS1 Gene Bardet-Biedl Syndrome Type 13 NGS Genetic DNA Test identifies mutations in the MKS1 gene associated with Bardet-Biedl Syndrome (BBS). This test helps understand genetic risk for individuals with symptoms or a family history of BBS.
FGG Gene Afibrinogenemia Congenital Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the FGG gene associated with congenital afibrinogenemia, a rare bleeding disorder. Essential for diagnosis and management.
ECE1 Gene Hirschsprung Disease Genetic Test
Genetic test analyzing the ECE1 gene to help diagnose Hirschsprung disease, a condition affecting the large intestine. Utilizes Next-Generation Sequencing (NGS) technology.
EZH2 Gene Weaver Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EZH2 gene associated with Weaver syndrome. Helps in early diagnosis and personalized management.
Spinal Muscular Atrophy Carrier Screening
Spinal Muscular Atrophy (SMA) Carrier Screening identifies individuals carrying gene mutations linked to SMA, a condition affecting muscle strength. This genetic test helps assess the risk of passing the condition to children, aiding informed family planning.
G6PD Newborn Screen Test
Screening newborns for G6PD deficiency, a genetic condition affecting red blood cells. Early detection is key for managing potential health issues.
Sickle Cell Anemia Mutation Detection Test
Detects genetic mutations associated with sickle cell anemia, an inherited blood disorder affecting hemoglobin. Early diagnosis aids management and improves patient outcomes.
GCNT2 Gene Cataract Autosomal Dominant Genetic Test
Genetic test for the GCNT2 gene to identify predisposition to autosomal dominant cataracts, especially relevant for those with a family history.
AARS1 Gene CMT2N Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AARS1 gene associated with Charcot-Marie-Tooth disease type 2N (CMT2N), a hereditary neurological disorder. Confirm with the laboratory before booking.
MYH2 Gene Inclusion Body Myopathy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MYH2 gene associated with inclusion body myopathy, a neuromuscular disorder causing muscle weakness. Confirm with the laboratory before booking.
TTC19 Gene Mitochondrial Complex III Deficiency Nuclear Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TTC19 gene, associated with mitochondrial complex III deficiency and neurological disorders. Helps guide diagnosis, treatment, and family planning.
CALR Gene Schizophrenia CALR Related Genetic Test
A genetic test using Next Generation Sequencing (NGS) to identify variations in the CALR gene associated with schizophrenia and related neurological disorders. This test can help understand genetic predispositions for early diagnosis and targeted treatment.
CLN6 Gene Ceroid Lipofuscinosis Neuronal Type 6 Genetic Test
Genetic test to identify mutations in the CLN6 gene associated with neuronal ceroid lipofuscinosis type 6, a rare metabolic disorder affecting the nervous system.
PSAP Gene Krabbe Disease Atypical Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PSAP gene associated with Krabbe disease, a rare metabolic disorder. Helps in early diagnosis and management.
AIFM1 Gene Deafness Xlinked Type 5 Genetic Test
This genetic test identifies mutations in the AIFM1 gene, a known cause of X-linked deafness. Using Next Generation Sequencing (NGS), it helps understand genetic hearing loss, especially in families with a history of the condition.
CTSC Gene Haim-Munk Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CTSC gene associated with Haim-Munk syndrome. Suitable for individuals with symptoms or family history.
UVSSA Gene UVsensitive Syndrome Type 3 Genetic Test
Genetic test to identify mutations in the UVSSA gene associated with UV-sensitive syndrome, aiding in understanding genetic predisposition to UV sensitivity and skin health risks.
WDPCP Gene Bardet-Biedl Syndrome Type 15 Genetic Test
This genetic test identifies mutations in the WDPCP gene associated with Bardet-Biedl syndrome type 15, a rare genetic disorder. It helps diagnose the condition in individuals with symptoms or a family history.
BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the BTK gene for conditions like agammaglobulinemia and isolated hormone deficiency.
EDN3 Gene Hirschsprung Disease Genetic Test
Genetic test to identify mutations in the EDN3 gene associated with Hirschsprung disease, a condition affecting the intestines. Helps in diagnosis and family planning.
DDX11 Gene Warsaw Breakage Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DDX11 gene associated with Warsaw Breakage Syndrome. Helps in diagnosing and managing this rare genetic disorder.
Spinal Muscular Atrophy Screening Prenatal
Prenatal screening to detect genetic risks for Spinal Muscular Atrophy (SMA) in an unborn child, helping expectant parents make informed decisions.
G6PD Gene Mutation Detection Test
Identifies mutations in the G6PD gene to diagnose glucose-6-phosphate dehydrogenase deficiency, a genetic condition affecting red blood cells.
Niemann Pick Disease Quantitative Blood Test
A blood test to measure sphingomyelinase enzyme activity, aiding in the diagnosis of Niemann-Pick disease, a rare genetic disorder affecting lipid metabolism. Early detection supports timely management.
Sickle Cell Anemia Trio Prenatal Mutation Detection Test
A genetic test to identify mutations associated with sickle cell anemia in unborn children, crucial for expectant parents with a family history or from high-risk populations.
CRYAA Gene Cataract Autosomal Recessive Congenital Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CRYAA gene associated with autosomal recessive congenital cataracts. Helps diagnose early-onset cataracts and understand family risks.
HSPB8 Gene CMT2L Genetic Test
This genetic test identifies mutations in the HSPB8 gene associated with Charcot-Marie-Tooth disease type 2L (CMT2L), a hereditary neuropathy. It helps diagnose neurological disorders, especially in individuals with a family history.
PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 Genetic Test
Genetic test to identify mutations in the PLA2G6 gene, associated with Infantile Neuroaxonal Dystrophy (INAD), a rare neurological disorder. Helps in early diagnosis and management.
COA8 Gene Mitochondrial Complex IV Deficiency Genetic Test
Genetic test for mutations in the COA8 gene, associated with mitochondrial complex IV deficiency. Helps diagnose mitochondrial disorders, especially those with neurological symptoms.
MYH7 Gene Scapuloperoneal Myopathy MYH7 Related Genetic Test
This genetic test identifies mutations in the MYH7 gene associated with scapuloperoneal myopathy, a rare neurological disorder affecting muscles. It uses Next-Generation Sequencing (NGS) technology to help diagnose the condition and guide treatment.
CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 Genetic Test
Genetic test to identify mutations in the CLN8 gene associated with Ceroid Lipofuscinosis Neuronal Type 8, a rare metabolic disorder.
LCT Gene Lactase Deficiency Congenital Genetic Test
Genetic test to identify congenital lactase deficiency, a condition affecting lactose digestion. Helps diagnose the cause of lactose intolerance symptoms.
COL4A6 Gene Deafness Xlinked Type 6 Genetic Test
Genetic test to identify mutations in the COL4A6 gene associated with X-linked deafness. Helps diagnose hereditary hearing loss and inform management.
PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PRF1 gene associated with Hemophagocytic Lymphohistiocytosis (HLH) Type 2. Helps diagnose this severe immune condition.
SOST Gene Van Buchem Disease Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to analyze the SOST gene for mutations associated with Van Buchem disease, a rare condition affecting bone density. It is recommended for individuals with a family history or symptoms related to bone health.
ARL6 Gene Bardet-Biedl Syndrome Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ARL6 gene, associated with Bardet-Biedl syndrome type 3. Helps in diagnosing this rare genetic disorder.
IGLL1 Gene Agammaglobulinemia Type 2 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the IGLL1 gene, associated with Agammaglobulinemia Type 2, an autosomal recessive immunodeficiency disorder. Helps diagnose the genetic cause of recurrent infections.
EDNRB Gene Hirschsprung Disease Genetic Test
Genetic test for mutations in the EDNRB gene associated with Hirschsprung disease, a condition affecting the colon. Uses Next-Generation Sequencing (NGS) technology.
ARNT2 Gene Webb-Dattani Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ARNT2 gene associated with Webb-Dattani syndrome. Helpful for individuals with developmental delays, distinctive facial features, or a family history of the condition.
Spinal Muscular Atrophy Gene Panel
Genetic test to screen for mutations in the SMN1 gene associated with Spinal Muscular Atrophy (SMA). Essential for early diagnosis and management.
FYCO1 Gene Cataract Autosomal Recessive Congenital Type 2 Genetic Test
Genetic test to identify mutations in the FYCO1 gene associated with autosomal recessive congenital cataracts. Uses Next-Generation Sequencing (NGS) technology.
LRSAM1 Gene CMT2P Genetic Test
The LRSAM1 Gene CMT2P NGS Genetic DNA Test identifies mutations in the LRSAM1 gene linked to Charcot-Marie-Tooth disease type 2P (CMT2P), a hereditary neurological disorder. This test can help understand genetic risks and guide management.
SCN9A Gene Insensitivity to Pain Channelopathy-Associated Genetic Test
Genetic test to identify mutations in the SCN9A gene associated with conditions causing insensitivity to pain. Utilizes Next Generation Sequencing (NGS) technology.
UQCC2 Gene Mitochondrial Complex III Deficiency Nuclear Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the UQCC2 gene, associated with mitochondrial complex III deficiency and neurological disorders.
CELSR2 Gene Schizophrenia CELSR2 Related Genetic Test
This genetic test analyzes the CELSR2 gene to identify potential genetic predispositions linked to schizophrenia. It uses Next Generation Sequencing (NGS) technology.
MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 Genetic Test
Genetic test to identify mutations in the MFSD8 gene associated with Ceroid lipofuscinosis neuronal type 7, a rare metabolic disorder. Helps in early diagnosis and management.
L2HGDH Gene L2-Hydroxyglutaric Aciduria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the L2HGDH gene associated with L-2-hydroxyglutaric aciduria, a rare metabolic disorder. Helps in early diagnosis and management.
SLC52A3 Gene FazioLonde Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLC52A3 gene associated with FazioLonde disease, a rare genetic disorder affecting the ear, nose, and throat. Helps diagnose the condition and understand hereditary risks.
UNC13D Gene Hemophagocytic Lymphohistiocytosis Type 3 Genetic Test
Genetic test for UNC13D gene mutations associated with Hemophagocytic Lymphohistiocytosis (HLH) Type 3, using Next-Generation Sequencing (NGS). Helps identify genetic predispositions for timely diagnosis and management.
TMEM173 Gene Vasculopathy Infantile-Onset TMEM173/STING Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TMEM173 gene, aiding in the diagnosis of infantile-onset vasculopathy.
BBS2 Gene Bardet-Biedl Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the BBS2 gene associated with Bardet-Biedl syndrome, a rare disorder affecting multiple body systems. Helps in early diagnosis and informed health decisions.
BTK Gene Agammaglobulinemia Type 1 Xlinked Genetic Test
This genetic test identifies mutations in the BTK gene, helping diagnose X-linked agammaglobulinemia, a condition causing recurrent infections due to low antibody levels. It uses advanced Next Generation Sequencing (NGS) technology.
KIF1BP Gene Hirschsprung Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KIF1BP gene, which is associated with Hirschsprung disease. Helps identify genetic predispositions to this condition.
Ltbp2 Gene Weill-Marchesani Syndrome Type 3 Genetic Test
Genetic test to identify mutations in the LTBP2 gene associated with Weill-Marchesani syndrome type 3. Helps in diagnosing this rare genetic disorder.
Spino Cerebral Ataxia SCA Single Form
Genetic test to identify specific mutations associated with Spino Cerebellar Ataxia (SCA), a condition affecting coordination and balance. Confirm with the laboratory before booking.
Comprehensive Tumor Panel 320 Genes
The Comprehensive Tumor Panel 320 Genes test identifies genetic mutations in tumors, aiding oncologists in developing personalized cancer treatment strategies. This test analyzes 320 genes associated with various cancers.
Nitrosonaphthol Urine Test
The Nitrosonaphthol Urine Test helps detect certain inborn errors of metabolism by analysing urine for specific compounds. This test aids in diagnosing metabolic disorders.
TDRD7 Gene Cataract Autosomal Recessive Congenital Type 4 Genetic Test
Genetic test to identify mutations in the TDRD7 gene associated with congenital cataracts. Recommended for individuals with a family history of early-onset cataracts.
CTDP1 Gene CMT4 CTDP1 Related Genetic Test
Genetic test to identify mutations in the CTDP1 gene associated with Charcot-Marie-Tooth disease (CMT), a neurological disorder. Helps in diagnosis and management.
CNKSR2 Gene Intellectual Disability Nonsyndromic CNKSR2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CNKSR2 gene associated with nonsyndromic intellectual disability. Helps understand the genetic basis of cognitive challenges.
Cox6b1 Gene Mitochondrial Complex IV Deficiency Genetic Test
Genetic test to identify mutations in the COX6B1 gene, associated with mitochondrial complex IV deficiency and neurological symptoms. Helps in diagnosing mitochondrial disorders for effective management.
GRID2 Gene Schizophrenia GRID2 Related Genetic Test
Genetic test analyzing the GRID2 gene to assess predisposition to schizophrenia using Next-Generation Sequencing (NGS).
ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ABHD5 gene associated with Chanarin-Dorfman syndrome, a rare metabolic disorder. Helps in diagnosis and understanding genetic risks.
LDHB Gene Lactate Dehydrogenase B Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the LDHB gene, associated with Lactate Dehydrogenase B deficiency, a metabolic disorder. Helps in diagnosis and understanding genetic risks.
MAP1A Gene Hearing Loss MAP1A Related Genetic Test
Genetic test to identify variations in the MAP1A gene associated with hearing loss using Next Generation Sequencing (NGS).
STX11 Gene Hemophagocytic Lymphohistiocytosis Type 4 Genetic Test
Genetic test to identify mutations in the STX11 gene associated with Hemophagocytic Lymphohistiocytosis (HLH), a severe immune disorder. Helps in early diagnosis and management.
NLRP1 Gene Vitiligo-Associated Multiple Autoimmune Disease Genetic Test
Genetic test analyzing the NLRP1 gene to assess risk for vitiligo and other autoimmune diseases. Helps understand genetic predispositions for proactive health management.
BBS4 Gene Bardet-Biedl Syndrome Type 4 Genetic Test
The BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test uses next-generation sequencing to analyze the BBS4 gene, helping to identify mutations associated with Bardet-Biedl syndrome. This test is important for diagnosis and understanding hereditary risks.
CD79A Gene Agammaglobulinemia Type 3 Autosomal Recessive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the CD79A gene, associated with Agammaglobulinemia Type 3, an immunodeficiency disorder. Recommended for individuals with relevant family history or recurrent infections.
NRG1 Gene Hirschsprung Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the NRG1 gene for mutations associated with Hirschsprung disease, aiding in diagnosis and management.
FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2 Genetic Test
Genetic test to identify mutations in the FBN1 gene associated with Weill-Marchesani syndrome, particularly for individuals with dysmorphology symptoms.
Spino Cerebral Ataxia SCA Panel 1 2 3 6 7 10 12
Genetic test analyzing multiple types of Spinocerebellar Ataxia (SCA) to help diagnose hereditary ataxia disorders. Aids in understanding genetic risks and guiding management.
Sirolimus Rapamycin Test
Monitor Sirolimus (Rapamycin) drug levels for organ transplant patients. This test helps ensure optimal medication dosage to prevent rejection and minimize side effects. Confirm price before booking.
SORD Gene Cataract Congenital Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SORD gene associated with congenital cataracts. Recommended for individuals with a family history of cataracts.
GDAP1 Gene CMT4A Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GDAP1 gene, associated with Charcot-Marie-Tooth disease type 4A (CMT4A).
CIC Gene Intellectual Disability Nonsyndromic CIC Related Genetic Test
This genetic test identifies mutations in the CIC gene associated with nonsyndromic intellectual disabilities, aiding in diagnosis and management.
FASTKD2 Gene Mitochondrial Complex IV Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the FASTKD2 gene, associated with mitochondrial complex IV deficiency and neurological disorders. Confirm with the laboratory before booking.
Notch4 Gene Schizophrenia Notch4 Related Genetic Test
The Notch4 Gene Schizophrenia test uses Next Generation Sequencing (NGS) to analyze the Notch4 gene, identifying potential genetic predispositions linked to schizophrenia and related neurological disorders. This test can provide insights for individuals with a family history or symptoms.
MTRNR2 Gene Chloramphenicol Resistance MTRNR2 Related Genetic Test
This genetic test identifies mutations in the MTRNR2 gene associated with chloramphenicol resistance, aiding in understanding metabolic disorder risks and guiding treatment. Confirm with the laboratory before booking.
PDHX Gene Lacticacidemia Due To PDX1 Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PDHX gene associated with lacticacidemia due to PDX1 deficiency, aiding in the diagnosis of metabolic disorders.
MYH7B Gene Hearing Loss MYH7B Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MYH7B gene associated with hereditary hearing loss. Helps diagnose the cause of hearing impairment.
STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the STXBP2 gene, associated with Hemophagocytic Lymphohistiocytosis (HLH) Type 5. A genetic counseling session is recommended before testing.
Loricrin Gene Vohwinkel Syndrome with Ichthyosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the loricrin gene associated with Vohwinkel syndrome and related skin conditions like ichthyosis. Aids in diagnosis and management.
BBS5 Gene Bardet-Biedl Syndrome Type 5 Genetic Test
Genetic test to identify mutations in the BBS5 gene associated with Bardet-Biedl Syndrome (BBS), a multi-system genetic disorder. Uses Next Generation Sequencing (NGS) technology.
BLNK Gene Agammaglobulinemia Type 4 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the BLNK gene associated with Agammaglobulinemia Type 4, an immunodeficiency disorder. Helps assess risk and guide management.
NRTN Gene Hirschsprung Disease Genetic Test
Genetic test to identify mutations in the NRTN gene associated with Hirschsprung disease, aiding in diagnosis and management.
WRN Gene Werner Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the WRN gene associated with Werner syndrome, a condition causing premature aging. Confirm with the laboratory before booking.
Delta Beta-Thalassaemia Mutation Screening
Delta Beta-Thalassaemia mutation screening identifies genetic mutations linked to beta-thalassaemia, a blood disorder affecting hemoglobin. This test is important for individuals with a family history or those planning a family.
Bacterial Meningitis Confirmatory Panel Test
This test helps confirm bacterial meningitis, a serious infection of the brain and spinal cord membranes. It identifies common bacterial causes like H. influenzae, N. meningitidis, and S. pneumoniae using PCR technology. Early diagnosis is critical for effective treatment.
AGK Gene Cataract Autosomal Recessive Type 38 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AGK gene associated with Autosomal Recessive Cataract Type 38. Helps understand genetic predisposition to cataracts.
MTMR2 Gene CMT4B1 Genetic Test
This genetic test identifies mutations in the MTMR2 gene associated with Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a neurological disorder. It uses Next-Generation Sequencing (NGS) technology.
FLNA Gene Intestinal Pseudoobstruction Neuronal Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FLNA gene associated with intestinal pseudoobstruction and neurological disorders.
MTCO3 Gene Mitochondrial Complex IV Deficiency Genetic Test
This genetic test identifies mutations in the MTCO3 gene, which can cause mitochondrial complex IV deficiency, a condition often linked to neurological disorders. It uses Next-Generation Sequencing (NGS) technology.
HSPG2 Gene Schwartz-Jampel Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HSPG2 gene associated with Schwartz-Jampel Syndrome Type 1, a rare neurological disorder. Aids in diagnosis and management.
ABCB11 Gene Cholestasis Benign Recurrent Intrahepatic Type 2 Genetic Test
Genetic test for the ABCB11 gene to help diagnose Benign Recurrent Intrahepatic Cholestasis Type 2, a condition affecting bile flow. Provides insights into genetic predispositions.
MCM6 Gene Lactose Intolerance Adult Type Genetic Test
Genetic test to identify variations in the MCM6 gene associated with adult-type lactose intolerance, aiding in personalized dietary management.
Pex1 Gene Heimler Syndrome Type 1 Genetic Test
The Pex1 Gene Heimler Syndrome Type 1 Genetic Test identifies genetic mutations linked to Heimler syndrome, a condition affecting the ear, nose, and throat. This test uses Next Generation Sequencing (NGS) to analyze the PEX1 gene. Confirm with the laboratory before booking.
CCBE1 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the CCBE1 gene associated with Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1, a rare disorder causing lymphedema and lymphatic malformations.
PAX3 Gene Waardenburg Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the PAX3 gene associated with Waardenburg syndrome Type 1, aiding diagnosis and family planning.
MKKS Gene Bardet-Biedl Syndrome Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MKKS gene associated with Bardet-Biedl Syndrome Type 6. Helps assess risk and guide management.
LRRC8A Gene Agammaglobulinemia Type 5 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the LRRC8A gene associated with Agammaglobulinemia Type 5, a rare immunodeficiency disorder. It uses Next Generation Sequencing (NGS) technology.
GDNF Gene Hirschsprung Disease Type 3 Susceptibility to Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the GDNF gene for variations associated with Hirschsprung disease susceptibility. Helps identify genetic predispositions for early diagnosis and management.
KMT2A Gene Wiedemann-Steiner Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KMT2A gene associated with Wiedemann-Steiner syndrome.
Prenatal Delta Beta Thalassaemia Mutation Screening
Prenatal Delta Beta Thalassaemia Mutation Screening identifies thalassaemia mutations in expectant mothers, aiding in early detection and management of potential genetic disorders in the fetus.
Targeted Mutation Analysis 1 Mutation
This genetic test identifies a specific mutation in your DNA that may affect your health. It helps understand genetic risks and informs health decisions. Available across Kenya.
Bacterial Pneumonia Panel PCR Test
Detects common bacterial causes of pneumonia, including Mycoplasma pneumoniae, Streptococcus pneumoniae, and Chlamydia. Helps guide appropriate antibiotic treatment.
Notch3 Mutation Detection CADASIL Test
Detects mutations in the Notch3 gene associated with CADASIL, a hereditary condition affecting brain blood vessels. Aids in diagnosing neurological symptoms like migraines and strokes.
SIL1 Gene Cataract Congenital Associated with Marinesco-Sjogren Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SIL1 gene associated with congenital cataracts and Marinesco-Sjogren Syndrome.
SBF2 Gene CMT4B2 Genetic Test
The SBF2 Gene CMT4B2 NGS Genetic DNA Test identifies mutations in the SBF2 gene associated with Charcot-Marie-Tooth disease type 4B2 (CMT4B2), a hereditary neuropathy. This test aids in diagnosing neurological disorders and understanding potential disease progression.
TBR1 Gene Intellectual Disability TBR1 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TBR1 gene associated with intellectual disabilities. Helps understand the genetic basis of neurological disorders.
MTATP6 Gene Mitochondrial Complex V ATP Synthase Deficiency Genetic Test
Genetic test for MTATP6 gene variations linked to mitochondrial complex V deficiency, aiding in the diagnosis of neurological and muscle disorders. Confirm with the laboratory before booking.
TH Gene Segawa Syndrome Autosomal Recessive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TH gene associated with Segawa syndrome, a rare neurological disorder. Helps confirm diagnosis and inform treatment.
ABCB4 Gene Cholestasis Intrahepatic of Pregnancy Type 3 Genetic Test
Genetic test to identify predispositions to cholestasis during pregnancy by analysing the ABCB4 gene. Helps in understanding risks and managing health effectively.
ACADL Gene LCAD Deficiency Genetic Test
The ACADL Gene LCAD Deficiency NGS Genetic DNA Test identifies mutations in the ACADL gene associated with Long-Chain Acyl-CoA Dehydrogenase (LCAD) deficiency, a metabolic disorder. Early diagnosis aids management.
GJB2 Gene Keratitis Ichthyosis Deafness Syndrome Autosomal Dominant Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GJB2 gene associated with Keratitis Ichthyosis Deafness Syndrome, an autosomal dominant condition affecting hearing and skin.
SP110 Gene Hepatic Venoocclusive Disease with Immunodeficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SP110 gene associated with hepatic venoocclusive disease and immunodeficiency. Helps in early detection and informed medical decisions.
SOX10 Gene Waardenburg Syndrome Type 2E Genetic Test
This genetic test identifies mutations in the SOX10 gene associated with Waardenburg syndrome Type 2E, a condition affecting hearing and pigmentation. Confirm with the laboratory before booking.
BBS7 Gene Bardet-Biedl Syndrome Type 7 Genetic Test
The BBS7 Gene Bardet-Biedl Syndrome Type 7 NGS Genetic DNA Test uses Next-Generation Sequencing to identify mutations in the BBS7 gene associated with Bardet-Biedl Syndrome. This test can help diagnose the condition and guide management.
Pik3R1 Gene Agammaglobulinemia Type 7 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the PIK3R1 gene associated with Agammaglobulinemia Type 7, an autosomal recessive immunodeficiency disorder. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
SIX3 Gene Holoprosencephaly Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SIX3 gene associated with Holoprosencephaly Type 2. Aids in early diagnosis and management.
Chr 7q11.23 Gene Williams-Beuren Syndrome Genetic Test
This genetic test identifies mutations in the Chr 7q11.23 gene associated with Williams-Beuren syndrome, aiding in diagnosis for individuals with relevant symptoms or family history.
DiGeorge Syndrome Karyotyping FISH
The DiGeorge Syndrome Karyotyping FISH test helps diagnose DiGeorge Syndrome, a genetic disorder caused by a deletion on chromosome 22. Early diagnosis is key for management.
Targeted Mutation Analysis 2 Mutations
Targeted Mutation Analysis 2 Mutations identifies specific genetic mutations linked to hereditary conditions. This test is important for individuals with a family history of genetic disorders or unexplained symptoms.
Galactose Quantitative Plasma Test
The Galactose Quantitative Plasma Test measures galactose levels in the blood to help diagnose metabolic disorders like galactosemia, enabling early intervention.
HPV Human Papilloma Virus Detection Genotyping Qualitative PCR DNA Test
Detects high-risk Human Papilloma Virus (HPV) strains linked to cervical cancer and other malignancies using a qualitative PCR DNA test. Early detection aids in timely management.
NPM1 Gene Mutation Test
The NPM1 Gene Mutation Test identifies mutations in the NPM1 gene, often linked to leukemia. This test aids in diagnosis and treatment planning. Confirm with the laboratory before booking.
LIM2 Gene Cataract Cortical Pulverulent Late-Onset Genetic Test
Genetic test to identify mutations in the LIM2 gene associated with late-onset cortical pulverulent cataracts. Recommended for individuals with a family history of cataracts.
SH3TC2 Gene CMT4C Genetic Test
The SH3TC2 Gene CMT4C NGS Genetic DNA Test identifies mutations in the SH3TC2 gene linked to Charcot-Marie-Tooth disease type 4C (CMT4C), a hereditary neurological disorder. This test uses Next-Generation Sequencing (NGS) technology to help diagnose and manage neurological conditions.
TIMM8A Gene Jensen Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TIMM8A gene associated with Jensen syndrome, a rare neurological disorder. Helps in diagnosing and managing neurological conditions.
PET100 Gene Mitochondrial Complex IV Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PET100 gene, associated with mitochondrial complex IV deficiencies and neurological disorders.
PRRT2 Gene Seizures Benign Familial Infantile Type 2 Genetic Test
Genetic test to identify mutations in the PRRT2 gene associated with benign familial infantile seizures, aiding in diagnosis and management.
ATP8B1 Gene Cholestasis Progressive Intrahepatic Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ATP8B1 gene, associated with progressive intrahepatic cholestasis. Helps diagnose metabolic disorders affecting bile flow.
Lcat Gene Lcat Deficiency Genetic Test
Genetic test to identify mutations in the LCAT gene, which can cause metabolic disorders related to cholesterol and fat processing. Helps in early diagnosis and management.
GJB2 Gene Keratoderma Palmoplantar with Deafness Genetic Test
Genetic test for mutations in the GJB2 gene associated with palmoplantar keratoderma and hearing loss. Helps diagnose genetic conditions related to skin and hearing.
SLC29A3 Gene Histiocytosis-Lymphadenopathy Plus Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SLC29A3 gene, associated with histiocytosis-lymphadenopathy plus syndrome and related immunological/dermatological conditions.
SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test
Genetic test to identify mutations in the SOX10 gene associated with Waardenburg syndrome Type 4C, a condition affecting pigmentation and hearing. Confirm with the laboratory before booking.
TTC8 Gene Bardet-Biedl Syndrome Type 8 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TTC8 gene for mutations associated with Bardet-Biedl syndrome. Helps identify genetic predispositions and guide management.
CD79B Gene Agammaglobulinemia Type 6 Autosomal Recessive Genetic Test
This genetic test identifies mutations in the CD79B gene associated with Agammaglobulinemia Type 6, a rare immunodeficiency. It helps diagnose the condition, enabling appropriate management and treatment.
CDON Gene Holoprosencephaly Type 11 Genetic Test
This genetic test identifies mutations in the CDON gene associated with holoprosencephaly type 11, a condition affecting brain development. It uses Next Generation Sequencing (NGS) technology on a DNA sample.
MSX1 Gene Witkop Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MSX1 gene associated with Witkop syndrome, a condition affecting craniofacial development. Confirm with the laboratory before booking.
DMD Carrier Screening 79 Exons
DMD Carrier Screening 79 Exons identifies if you carry a gene mutation for Duchenne Muscular Dystrophy (DMD), a severe muscle disorder. This test helps with family planning and understanding genetic risks.
TBX5 Full Length Gene Sequence Analysis HoltOram Syndrome
Genetic test analyzing the TBX5 gene to help diagnose Holt-Oram Syndrome, a condition linked to heart defects and upper limb abnormalities.
Carrier Screening
Carrier Screening identifies if you carry genes for certain inherited conditions, helping prospective parents understand risks for their children. Genetic counseling is available.
Galactose 1-Phosphate Quantitative Blood Test
The Galactose 1-Phosphate Quantitative Blood Test helps diagnose galactosemia, a metabolic disorder affecting galactose processing, particularly important for children. Early detection allows for dietary management to prevent serious health issues.
HPV Chlamydia Trachomatis Neisseria Gonorrhea PCR Panel Qualitative Test
Detects Human Papillomavirus (HPV), Chlamydia Trachomatis, and Neisseria Gonorrhea using advanced PCR technology. Essential for diagnosing common sexually transmitted infections (STIs).
NPM1 Gene Mutation Quantitative MRD Monitor Test
Monitor minimal residual disease (MRD) in leukemia patients with NPM1 mutations using the NPM1 Gene Mutation Quantitative MRD Monitor Test. Helps assess treatment response and relapse risk.
Hsf4 Gene Cataract Lamellar Genetic Test
This genetic test identifies mutations in the HSF4 gene linked to cataract development, using Next Generation Sequencing (NGS) technology. It helps understand genetic risks and informs management strategies.
NDRG1 Gene CMT4D Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NDRG1 gene associated with Charcot-Marie-Tooth disease type 4D (CMT4D), a hereditary neurological disorder.
OFD1 Gene Joubert Syndrome Type 10 Genetic Test
This genetic test analyzes the OFD1 gene to identify mutations associated with Joubert syndrome type 10, a neurological disorder. It aids in diagnosis and treatment planning.
ATPAF2 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 1 Genetic Test
Genetic test for ATPAF2 gene mutations linked to mitochondrial ATP synthase deficiency, a cause of neurological disorders. Utilizes Next Generation Sequencing (NGS).
KCNQ3 Gene Seizures Benign Neonatal Type 2 Genetic Test
This genetic test identifies mutations in the KCNQ3 gene associated with benign neonatal seizures, aiding in the diagnosis and management of neurological disorders in newborns.
ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ABCB11 gene associated with Progressive Intrahepatic Cholestasis Type 2 (PFIC2).
ITGB1 Gene Leukocyte Adhesion Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ITGB1 gene associated with Leukocyte Adhesion Deficiency (LAD). Helps understand predisposition to infections and related complications.
GJB2 Gene Knuckle Pads and Leukonychia Sensorineural Deafness Genetic Test
This genetic test identifies mutations in the GJB2 gene associated with sensorineural hearing loss, knuckle pads, and leukonychia using Next Generation Sequencing (NGS).
TLR3 Gene Herpes Simplex Encephalitis Type 2 Susceptibility to Genetic Test
This genetic test identifies variations in the TLR3 gene associated with increased susceptibility to severe Herpes Simplex Encephalitis (HSE). Understanding your genetic risk can inform proactive management.
MMP14 Gene Winchester Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MMP14 gene associated with Winchester Syndrome. Helps diagnose this rare genetic disorder affecting skin, bones, and the immune system.
BBS9 Gene Bardet-Biedl Syndrome Type 9 Genetic Test
The BBS9 Gene Bardet-Biedl Syndrome Type 9 Genetic Test identifies mutations in the BBS9 gene associated with Bardet-Biedl syndrome, a rare genetic disorder. This test uses Next Generation Sequencing (NGS) technology to analyze DNA for specific variations.
GLRX5 Gene Anemia Sideroblastic Pyridoxinerefractory Autosomal Recessive Genetic Test
This genetic test analyzes the GLRX5 gene to identify mutations associated with a specific type of sideroblastic anemia. It helps diagnose the genetic cause of this blood disorder, guiding treatment and management.
TGIF1 Gene Holoprosencephaly Type 4 Genetic Test
Genetic test to identify mutations in the TGIF1 gene associated with holoprosencephaly, a condition affecting brain development. Utilizes Next Generation Sequencing (NGS) technology.
ZIC5 Gene ZIC5 Related Brain Disorders Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ZIC5 gene for mutations associated with brain development disorders and dysmorphology.
DMD Mutation Screening 79 Exons Prenatal
Prenatal genetic test to detect mutations in the dystrophin gene associated with Duchenne muscular dystrophy (DMD). Helps expectant parents understand risks for early management.
Telaml1 Qualitative
The Telaml1 Qualitative test uses Real Time PCR to detect specific genetic markers. This genetic test can aid in the early detection of certain health conditions.
Clinical Exome Sequencing for Couple
Clinical Exome Sequencing for Couples analyzes the genetic coding regions of both partners to identify potential inherited disorders, aiding informed family planning.
Hhv 7 Dna Detection Rna Detection Qualitative Test
Detects the presence of Human Herpesvirus 7 (HHV 7) DNA and RNA using Real Time PCR, aiding in the diagnosis of viral infections.
BCRABL Gene Rearrangement PCR Qualitative Test
Detects the BCR-ABL fusion gene, a key marker for Chronic Myeloid Leukemia (CML) and some other leukemias. This test helps in diagnosis and treatment planning.
Culture Bordetella Test
Detects Bordetella bacteria, a common cause of respiratory infections like whooping cough. Helps guide treatment for respiratory symptoms.
Galactosemia Epimerase Quantitative Blood Test
The Galactosemia Epimerase Quantitative Blood Test measures the activity of the galactose epimerase enzyme in the blood. It is used to help diagnose galactosemia, an inherited metabolic disorder where the body cannot properly process galactose. Early diagnosis is important for managing this condition.
EGR2 Gene CMT4E Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EGR2 gene associated with Charcot-Marie-Tooth disease type 4E (CMT4E), a neurological disorder.
INPP5E Gene Joubert Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the INPP5E gene associated with Joubert syndrome, a neurological disorder. Uses Next Generation Sequencing (NGS) technology.
TMEM70 Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 2 Genetic Test
Genetic test to identify mutations in the TMEM70 gene, associated with mitochondrial complex V deficiency and neurological disorders. Helps diagnose and guide treatment.
KCNQ2 Gene Seizures Benign Neonatal Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the KCNQ2 gene associated with benign neonatal seizures. Helps in early diagnosis and management.
ABCB4 Gene Cholestasis Progressive Intrahepatic Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ABCB4 gene associated with progressive intrahepatic cholestasis type 3, a liver disorder. Helps diagnose and manage liver conditions.
ITGB2 Gene Leukocyte Adhesion Deficiency Genetic Test
Genetic test to identify mutations in the ITGB2 gene, aiding in the diagnosis of Leukocyte Adhesion Deficiency (LAD), a rare immune system disorder. Confirm with the laboratory before booking.
COL11A1 Gene Marshall Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the COL11A1 gene associated with Marshall syndrome, a condition affecting ear, nose, and throat structures. Confirm with the laboratory before booking.
ANTXR2 Gene Hyaline Fibromatosis Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ANTXR2 gene associated with Hyaline Fibromatosis Syndrome. Helps understand genetic risks for skin and connective tissue disorders, especially with a family history.
CXCR4 Gene WHIM Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CXCR4 gene, aiding in the diagnosis of WHIM syndrome and related immunological disorders. Recommended for individuals with relevant symptoms or family history.
CCDC28B Gene Bardet-Biedl Syndrome Modifier of CCDC28B Related Genetic Test
This genetic test analyzes the CCDC28B gene to identify variations associated with Bardet-Biedl syndrome, a rare genetic disorder. It uses next-generation sequencing (NGS) technology to provide accurate results for individuals with a family history or symptoms related to the syndrome.
SPTB Gene Anemia Neonatal Hemolytic Fatal and Near-Fatal Genetic Test
This genetic test identifies mutations in the SPTB gene associated with severe neonatal hemolytic anemia. It uses Next-Generation Sequencing (NGS) technology to help diagnose genetic conditions causing significant anemia in newborns, aiding in early management.
SHH Gene Holoprosencephaly Type 3 Genetic Test
This genetic test identifies mutations in the SHH gene associated with Holoprosencephaly Type 3, a condition affecting brain development. It uses Next Generation Sequencing (NGS) technology for accurate detection.
Breast Cancer BRCA1 BRCA2 Gene Test
Genetic test to identify mutations in the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast and ovarian cancer. Helps inform risk assessment and management.
DMDBMD Mutation Screening 26 Exons
This genetic test screens for mutations in the DMD gene, associated with Duchenne and Becker Muscular Dystrophy. It helps in early diagnosis and management.
Clinical Exome Trio Sequencing
Clinical Exome Trio Sequencing analyzes the coding regions of genes (exomes) from three family members (typically a child and parents) to identify genetic variations associated with inherited disorders. This comprehensive test helps diagnose conditions, understand hereditary risks, and inform healthcare decisions.
BCRABL Gene Rearrangement PCR Quantitative Test
This test detects the BCR-ABL fusion gene, a key marker for certain types of leukemia, aiding in diagnosis and treatment monitoring.
Galactosemia GALT Gene Mutation Detection Test
Detects mutations in the GALT gene to diagnose galactosemia, a serious metabolic disorder affecting galactose metabolism. Essential for early diagnosis and management.
Human Herpes Virus 7 HHV7 Qualitative PCR Test
Detects the presence of Human Herpes Virus 7 (HHV7) using a sensitive PCR test. Helps diagnose HHV7 infections and guide treatment.
NTx Collagen Crosslinked N Telopeptide Urine Test
The NTx Collagen Crosslinked N Telopeptide Urine Test measures bone resorption, helping assess osteoporosis risk and monitor treatment effectiveness. This test is valuable for individuals concerned about bone health.
Maf Gene Cataract Pulverulent or Cerulean with or without Microcornea Genetic Test
Genetic test to identify mutations in the MAF gene associated with specific types of cataracts (Pulverulent or Cerulean) and microcornea. Helps understand genetic risk for early intervention.
PRX Gene CMT4F Genetic Test
Genetic test to identify mutations in the PRX gene associated with Charcot-Marie-Tooth disease type 4F (CMT4F), a hereditary neurological disorder.
TMEM237 Gene Joubert Syndrome Type 14 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TMEM237 gene for variations associated with Joubert Syndrome Type 14. Helps diagnose this rare neurological disorder.
ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test
Genetic test for ATP5F1E gene mutations, identifying potential causes of mitochondrial complex V deficiency and related neurological disorders. Utilizes Next Generation Sequencing (NGS).
KCNJ10 Gene Sesame Syndrome Genetic Test
This genetic test identifies mutations in the KCNJ10 gene, which are associated with Sesame Syndrome and other neurological disorders. It uses Next-Generation Sequencing (NGS) technology for comprehensive analysis.
ATP8B1 Gene Cholestasis Benign Recurrent Intrahepatic Genetic Test
This genetic test identifies mutations in the ATP8B1 gene, which can cause benign recurrent intrahepatic cholestasis (BRIC), a liver condition affecting bile flow. It uses Next-Generation Sequencing (NGS) technology for accurate results.
AGPAT2 Gene Lipodystrophy Generalized Type 1 Genetic Test
This genetic test analyzes the AGPAT2 gene to help diagnose Lipodystrophy Generalized Type 1, a condition affecting fat distribution and metabolism. It uses Next-Generation Sequencing (NGS) technology.
Timm8A Gene Opticoacoustic Nerve Atrophy with Dementia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the Timm8A gene for variations associated with opticoacoustic nerve atrophy and dementia. Helps identify genetic predispositions to neurodegenerative conditions.
STAT3 Gene HyperIgE Recurrent Infection Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the STAT3 gene associated with Hyper-IgE Syndrome, a rare immunological disorder characterized by recurrent infections and eczema.
EIF2AK3 Gene Wolcott-Rallison Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the EIF2AK3 gene, aiding in the diagnosis of Wolcott-Rallison syndrome, a rare genetic disorder.
LZTFL1 Gene Bardet-Biedl Syndrome LZTFL1 Related Genetic Test
The LZTFL1 Gene Bardet-Biedl Syndrome NGS Genetic DNA Test identifies genetic mutations linked to Bardet-Biedl Syndrome (BBS), a rare disorder affecting multiple body systems. This test helps individuals understand their genetic risk for early management.
SLC25A38 Gene Anemia Sideroblastic Pyridoxine-Refractory Autosomal Recessive Genetic Test
Genetic test to identify mutations in the SLC25A38 gene associated with pyridoxine-refractory sideroblastic anemia, a specific type of anemia. Uses Next Generation Sequencing (NGS) technology.
ZIC2 Gene Holoprosencephaly Type 5 Genetic Test
The ZIC2 Gene Holoprosencephaly Type 5 Genetic Test identifies mutations in the ZIC2 gene associated with Holoprosencephaly, a condition affecting brain development. This test is important for individuals with a family history of related conditions.
Breast Comprehensive Panel Genetic Test
Comprehensive genetic test using Next Generation Sequencing (NGS) to assess inherited risk factors for breast cancer by analyzing key genes like BRCA1, BRCA2, and PALB2.
DMDBMD Mutation Screening 26 Exons Prenatal
Prenatal genetic screening for mutations in the DMDBMD gene across 26 exons. Helps expectant parents understand potential genetic risks for their baby.
TELAML1 Quantitative
The TELAML1 Quantitative test detects genetic abnormalities linked to blood disorders like leukemia, aiding in diagnosis and management. Confirm with the laboratory before booking.
NGS Whole Exome for Couple
Comprehensive genetic screening for couples planning a family. Analyzes the exome to identify potential risks for inherited conditions, aiding informed reproductive health decisions.
HHV 6 Viral Load Quantitative Test
The HHV 6 Viral Load Quantitative Test measures the amount of Human Herpesvirus 6 (HHV 6) in your body. This test helps diagnose active infections and monitor treatment effectiveness, especially for individuals with weakened immune systems or specific symptoms. Confirm with the laboratory before booking.
Galactosemia Classical Transferase Quantitative Blood Test
This test measures the activity of the GALT enzyme in the blood to help diagnose classical galactosemia, a metabolic disorder affecting galactose processing.
Huntington Disease Mutation Detection Test
Genetic test to identify mutations in the HTT gene associated with Huntington's disease. Helps individuals with a family history understand their risk.
NHS Gene Cataract Xlinked Genetic Test
This genetic test identifies mutations in the NHS gene associated with X-linked cataracts, aiding in early diagnosis and management.
MPZ Gene CMT4E Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MPZ gene associated with Charcot-Marie-Tooth disease type 4E (CMT4E), a hereditary neurological disorder.
TCTN1 Gene Joubert Syndrome Type 13 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TCTN1 gene, associated with Joubert syndrome, a neurological disorder. Helps in diagnosing conditions affecting brain development.
AKAP1 Gene Mitochondrial Disorders AKAP1 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the AKAP1 gene, associated with certain mitochondrial disorders and neurological conditions. Confirm with the laboratory before booking.
SLC17A5 Gene Sialuria Finish Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLC17A5 gene, associated with Sialuria and related neurological conditions. Confirm with the laboratory before booking.
LIPA Gene Cholesteryl Ester Storage Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the LIPA gene associated with Cholesteryl Ester Storage Disease (CESD), a rare metabolic disorder. Aids in diagnosis and management.
BSCL2 Gene Lipodystrophy Generalized Type 2 Genetic Test
Genetic test to identify mutations in the BSCL2 gene associated with generalized lipodystrophy type 2, a metabolic disorder affecting fat distribution. Helps in diagnosis and management.
TRMU Gene Mitochondrial Modifier of Deafness Genetic Test
Genetic test analyzing the TRMU gene to understand its role as a mitochondrial modifier in deafness. Provides insights for individuals with a family history of hearing loss.
Dock8 Gene Hyper-IgE Recurrent Infection Syndrome Autosomal Recessive Genetic Test
Genetic test to identify mutations in the Dock8 gene associated with Hyper-IgE Recurrent Infection Syndrome, a rare immune disorder. Helps diagnose individuals with recurrent infections, eczema, and respiratory issues.
ATP6V0A2 Gene Wrinkly Skin Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ATP6V0A2 gene associated with wrinkly skin syndrome.
SLC12A3 Gene Bartter Syndrome Genetic Test
Genetic test to identify mutations in the SLC12A3 gene associated with Bartter syndrome, a kidney disorder affecting salt reabsorption. Helps diagnose the condition and guide management.
ABCB7 Gene Anemia Sideroblastic with Ataxia Genetic Test
Genetic test to identify mutations in the ABCB7 gene, associated with sideroblastic anemia and ataxia. Helps understand the cause of these conditions, especially with a family history.
TBX5 Gene Holt-Oram Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the TBX5 gene, aiding in the diagnosis of Holt-Oram Syndrome, a condition affecting heart and limb development. Confirm with the laboratory before booking.
Cancer Comprehensive Panel Genetic Test
The Cancer Comprehensive Panel NGS Genetic DNA Test uses advanced Next-Generation Sequencing (NGS) technology to identify genetic mutations linked to an increased risk of various cancers. This test provides valuable information for risk assessment and personalized health management.
Thiopurine Methyltransferase TPMT 2 3A 3B 3C Genotyping
Thiopurine Methyltransferase (TPMT) Genotyping assesses how your body processes thiopurine medications. This genetic test helps guide safe and effective medication management for conditions like autoimmune diseases and certain cancers. Confirm with the laboratory before booking.
Galactosemia Newborn Screen Test
Screening test for newborns to detect galactosemia, a metabolic disorder affecting galactose processing. Early detection is crucial for managing the condition and preventing serious health issues.
Hydroxyproline Plasma Test
The Hydroxyproline Plasma Test measures hydroxyproline levels in plasma to help diagnose inborn errors of metabolism, particularly in pediatric patients.
Nx Gen Sequencing Familial Hemiplegic Migraine Test
Genetic test using Next Generation Sequencing to identify mutations associated with Familial Hemiplegic Migraine (FHM), a rare type of migraine. Helps understand genetic predisposition and guide management.
GJA8 Gene Cataract-Microcornea Syndrome Genetic Test
Genetic test to identify mutations in the GJA8 gene associated with cataract and microcornea syndromes, aiding in diagnosis and management of eye disorders.
Fgd4 Gene Cmt4h Genetic Test
The FGD4 Gene CMT4H NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders like Charcot-Marie-Tooth disease (CMT4H). This test uses Next Generation Sequencing (NGS) technology to provide insights into genetic factors contributing to these conditions.
CEP41 Gene Joubert Syndrome Type 15 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CEP41 gene associated with Joubert syndrome, a rare neurological disorder. Helps diagnose and manage neurological symptoms.
ATP5F1A Gene Mitochondrial Complex V Deficiency Nuclear Type 4 Genetic Test
Genetic test to identify mutations in the ATP5F1A gene, associated with mitochondrial complex V deficiency and neurological disorders. Helps in diagnosis and management.
GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 Genetic Test
The GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 NGS Genetic DNA Test uses advanced sequencing technology to identify genetic mutations associated with Simpson-Golabi-Behmel syndrome. This test is recommended for individuals with a family history of the condition or those showing related symptoms.
ATP8B1 Gene Cholestasis Intrahepatic of Pregnancy Type 1 Genetic Test
Genetic test to identify mutations in the ATP8B1 gene associated with intrahepatic cholestasis of pregnancy (ICP), aiding in risk assessment and management.
CAVIN1 Gene Lipodystrophy Generalized Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CAVIN1 gene associated with generalized lipodystrophy, a metabolic disorder.
FLNA Gene Otopaladigital Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the FLNA gene for mutations associated with Otopaladigital Syndrome Type 1, a rare condition affecting ears, nose, throat, and digits.
HPGD Gene Hypertrophic Osteoarthropathy Type 1 Genetic Test
Genetic test for mutations in the HPGD gene associated with Hypertrophic Osteoarthropathy Type 1. Helps identify predisposition and inform management.
XPA Gene Xeroderma Pigmentosum Group A Genetic Test
Genetic test for mutations in the XPA gene, associated with Xeroderma Pigmentosum (XP), a condition causing extreme sun sensitivity and increased skin cancer risk. Utilizes Next Generation Sequencing (NGS).
SLC12A2 Gene Bartter Syndrome Genetic Test
Genetic test to identify mutations in the SLC12A2 gene associated with Bartter syndrome, a rare kidney disorder affecting electrolyte balance.
HSPA9 Gene Anemia Sideroblastic Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the HSPA9 gene for mutations associated with sideroblastic anemia. Helps diagnose the genetic cause of anemia and inform treatment.
GLI2 Gene Holoprosencephaly-Type 9 Genetic Test
The GLI2 Gene Holoprosencephaly-Type 9 NGS Genetic DNA Test identifies genetic mutations in the GLI2 gene associated with holoprosencephaly, a condition affecting brain development. This test aids in early diagnosis and management.
Myeloid Tumor Panel Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in genes associated with myeloid tumors, aiding in diagnosis and personalized treatment planning.
Thiotcongo Stain
The Thiotcongo Stain test is a diagnostic tool used to help identify certain genetic markers in tissue samples, aiding in the detection of specific genetic disorders. Confirm with the laboratory before booking.
NIPT Advanced for 23 Chromosomes
A non-invasive blood test during pregnancy to screen for common chromosomal abnormalities in the fetus, such as Down syndrome. Provides early risk assessment.
JEV RNA Detection Qualitative Test
Detects the presence of Japanese Encephalitis Virus (JEV) RNA using Real-Time PCR. Essential for diagnosing JEV infections, especially in symptomatic individuals or those at risk.
Galactosemia Panel 1 Test
The Galactosemia Panel 1 Test helps detect galactosemia, a rare genetic disorder affecting galactose metabolism. Early diagnosis is key for management.
Nx Gen Sequencing 4H Syndrome Test
The Nx Gen Sequencing 4H Syndrome Test uses advanced genetic analysis to identify defects associated with neurological, dental, or pediatric conditions. This test examines the POLR3A and POLR3B genes.
IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
This genetic test analyzes the IARS2 gene to identify mutations linked to conditions like cataracts, growth hormone deficiency, sensory neuropathy, hearing loss, and skeletal dysplasia. Understanding your genetic profile can help in managing potential health risks.
GNB4 Gene CMTDIF Genetic Test
The GNB4 Gene CMTDIF NGS Genetic DNA Test uses Next Generation Sequencing to identify mutations in the GNB4 gene, which are linked to certain neurological disorders. This test can help understand genetic risk and inform management strategies.
TMEM138 Gene Joubert Syndrome Type 16 Genetic Test
This genetic test analyzes the TMEM138 gene to help diagnose Joubert syndrome, a neurological disorder. It uses Next Generation Sequencing (NGS) to detect mutations associated with the condition.
DGUOK Gene Mitochondrial DNA Depletion Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the DGUOK gene, associated with mitochondrial DNA depletion syndromes and neurological disorders.
ALDH3A2 Gene Sjogren-Larsson Syndrome Genetic Test
Genetic test to identify mutations in the ALDH3A2 gene associated with Sjogren-Larsson syndrome, a rare neurological disorder. Uses Next Generation Sequencing (NGS) technology.
SAR1B Gene Chylomicron Retention Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SAR1B gene associated with chylomicron retention disease, a rare metabolic disorder. Helps diagnose the condition and guide management.
LMNA Gene Lipodystrophy Type 2 Familial Partial Genetic Test
Genetic test to identify mutations in the LMNA gene associated with Familial Partial Lipodystrophy, a condition affecting fat distribution and metabolism.
SLC26A4 Gene Pendred Syndrome Genetic Test
Genetic test to identify mutations in the SLC26A4 gene associated with Pendred syndrome, a condition causing hearing loss and potential thyroid issues.
SLCO2A1 Gene Hypertrophic Osteoarthropathy Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SLCO2A1 gene associated with Hypertrophic Osteoarthropathy Type 2. Helps assess risk and guide management.
XPC Gene Xeroderma Pigmentosum Group C Genetic Test
Genetic test to identify mutations in the XPC gene, associated with Xeroderma Pigmentosum (XP), a condition causing extreme sun sensitivity and increased skin cancer risk.
SLC12A5 Gene Bartter Syndrome Genetic Test
Genetic test to identify mutations in the SLC12A5 gene associated with Bartter syndrome, a rare kidney disorder affecting electrolyte balance.
ALAS2 Gene Anemia Sideroblastic X-Linked Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ALAS2 gene, aiding in the diagnosis of X-linked sideroblastic anemia.
LMNA Gene Hutchinson-Gilford Progeria Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the LMNA gene associated with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare condition causing accelerated aging in children.
Solid Tumor Panel Genetic Test
The Solid Tumor Panel NGS Genetic DNA Test uses advanced Next-Generation Sequencing (NGS) technology to identify genetic mutations in solid tumors. This test helps guide personalized cancer treatment planning.
Dystonia Gene Panel
The Dystonia Gene Panel is a genetic test to identify mutations associated with dystonia, a movement disorder. It helps understand genetic predispositions and inform management decisions.
Torch Panel Real Time PCR
The TORCH Panel Real Time PCR test detects infections (Toxoplasmosis, Syphilis, Rubella, Cytomegalovirus, Herpes Simplex Virus) that can affect fetal development during pregnancy. Recommended for expectant mothers to ensure a healthy pregnancy.
CLN6 Additional Family Members
Genetic test for family members to assess risk for CLN6-related conditions. Helps families understand hereditary risks.
Galactosemia Panel 3 Test
The Galactosemia Panel 3 Test helps diagnose galactosemia, a metabolic disorder affecting galactose processing. Early detection is key for managing this condition in infants and children.
Nx Gen Sequencing Adrenoleukodystrophy Test
The Nx Gen Sequencing Adrenoleukodystrophy Test identifies genetic mutations linked to Adrenoleukodystrophy (ALD), a neurological disorder. This test aids in early diagnosis and management for individuals with relevant symptoms or family history.
Aco2 Gene Cerebellarretinal Degeneration Infantile Genetic Test
Genetic test for mutations in the ACO2 gene associated with infantile cerebellar and retinal degeneration. Uses Next Generation Sequencing (NGS) for accurate diagnosis.
FIG4 Gene CMT4J Genetic Test
The FIG4 Gene CMT4J Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the FIG4 gene associated with Charcot-Marie-Tooth disease type 4J (CMT4J), a neurological disorder. Confirm with the laboratory before booking.
CPLANE1 Gene Joubert Syndrome Type 17 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CPLANE1 gene associated with Joubert syndrome. Helps in diagnosis and management of neurological disorders.
SUCLA2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the SUCLA2 gene associated with Mitochondrial DNA Depletion Syndrome, often linked to neurological disorders.
ARHGEF10 Gene Slowed Nerve Conduction Velocity Autosomal Dominant Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ARHGEF10 gene associated with slowed nerve conduction velocity, aiding in the diagnosis of related neurological disorders.
SLC25A13 Gene Citrin Deficiency Genetic Test
Genetic test to identify mutations in the SLC25A13 gene, responsible for Citrin deficiency, a rare metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
PPARG Gene Lipodystrophy Familial Partial Type 3 Genetic Test
This genetic test identifies mutations in the PPARG gene associated with Familial Partial Lipodystrophy Type 3, a metabolic disorder affecting fat distribution. Understanding your genetic risk helps in early diagnosis and management.
FLNA Gene Otopaladigital Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the FLNA gene associated with Otopaladigital Syndrome Type 2, a condition affecting ear, nose, and throat development.
FGFR3 Gene Hypochondroplasia Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the FGFR3 gene for mutations associated with hypochondroplasia, a condition affecting bone growth.
ERCC2 Gene Xeroderma Pigmentosum Group D Genetic Test
Genetic test for mutations in the ERCC2 gene, associated with Xeroderma Pigmentosum (XP), a condition causing extreme sensitivity to UV light and increased skin cancer risk. Utilizes Next-Generation Sequencing (NGS) technology.
SLC12A7 Gene Bartter Syndrome Genetic Test
This genetic test identifies mutations in the SLC12A7 gene, which are associated with Bartter syndrome, a kidney disorder affecting electrolyte balance. Confirm with the laboratory before booking.
GATA1 Gene Anemia Xlinked Genetic Test
The GATA1 Gene Anemia Xlinked NGS Genetic DNA Test identifies genetic mutations linked to X-linked GATA1 gene anemia, primarily affecting males. This test uses Next Generation Sequencing (NGS) for accurate diagnosis and helps guide treatment.
FLVCR2 Gene Hydranencephaly Fowler Type Genetic Test
Genetic test analyzing the FLVCR2 gene to identify mutations associated with hydranencephaly, a severe brain malformation. Recommended for families with a history of the condition.
DNMT3A Gene Acute Myeloid Leukemia Somatic DNMT3A Related Genetic Test
This genetic test identifies mutations in the DNMT3A gene associated with Acute Myeloid Leukemia (AML). It uses Next Generation Sequencing (NGS) to provide insights for diagnosis and treatment planning.
Erythropoetin Receptor Gene Mutation Analysis
This genetic test identifies mutations in the erythropoietin receptor gene, which can affect red blood cell production. It helps diagnose certain blood disorders.
Toxoplasma Qualitative PCR
Detects the presence of Toxoplasma gondii parasite DNA using a sensitive PCR test. Recommended for pregnant women and immunocompromised individuals. Confirm price and availability before booking.
Beta 2 Glycoprotein 1 Panel IgG IgM IgA Test
This test measures antibodies against beta-2 glycoprotein 1 (IgG, IgM, IgA) to help evaluate the risk of thromboembolic disorders (blood clots).
Galactosemia Panel 2 Test
The Galactosemia Panel 2 Test helps diagnose galactosemia, a rare inherited metabolic disorder affecting galactose processing. Early detection is key for management and preventing complications.
Nx Gen Sequencing Aicardigoutieres Syndrome Test
Genetic test using Next-Generation Sequencing (NGS) and Sanger sequencing to identify mutations associated with Aicardigoutieres Syndrome and related encephalopathies.
PRPH2 Gene Choroidal Dystrophy Central Areolar Type 2 Genetic Test
Genetic test to identify mutations in the PRPH2 gene associated with central areolar choroidal dystrophy, a condition causing progressive vision loss. Uses Next Generation Sequencing (NGS) technology.
KARS1 Gene CMTRIB Genetic Test
The KARS1 Gene CMTRIB NGS Genetic DNA Test uses advanced sequencing to identify genetic mutations linked to neurological disorders. This test can help individuals understand their risk and make informed health decisions.
TCTN3 Gene Joubert Syndrome Type 18 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TCTN3 gene associated with Joubert Syndrome Type 18, a neurological disorder. Confirm with the laboratory before booking.
TK2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test
Genetic test to identify mutations in the TK2 gene associated with mitochondrial DNA depletion syndrome, often linked to neurological disorders. Uses Next Generation Sequencing (NGS).
RAI1 Gene Smith-Magenis Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RAI1 gene, associated with Smith-Magenis syndrome. Helps confirm diagnosis and guide management.
ASS1 Gene Citrullinemia Genetic Test
The ASS1 Gene Citrullinemia NGS Genetic DNA Test identifies mutations in the ASS1 gene linked to Citrullinemia, a metabolic disorder. This test aids in diagnosing the condition for timely management.
HADHA Gene Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the HADHA gene, associated with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, a metabolic disorder. Confirm with the laboratory before booking.
FLCN Gene Pneumothorax Primary Spontaneous Genetic Test
Genetic test to identify variations in the FLCN gene associated with an increased risk of primary spontaneous pneumothorax. Uses Next-Generation Sequencing (NGS) technology.
DMP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 1 Genetic Test
This genetic test identifies mutations in the DMP1 gene, which can cause hypophosphatemic rickets, a condition affecting bone health. It uses advanced Next-Generation Sequencing (NGS) technology for accurate diagnosis.
DDB2 Gene Xeroderma Pigmentosum Group E DDB-Negative Subtype Genetic Test
Genetic test for mutations in the DDB2 gene, associated with Xeroderma Pigmentosum Group E (DDB-Negative subtype). Helps assess risk for UV sensitivity and skin cancer.
SLC12A1 Gene Bartter Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the SLC12A1 gene, aiding in the diagnosis of Bartter syndrome, a rare kidney disorder. It uses Next Generation Sequencing (NGS) technology for accurate results.
HP Gene Anhaptoglobinemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the HP gene for mutations related to anhaptoglobinemia and potential hematological disorders.
HYLS1 Gene Hydrolethalus Syndrome Genetic Test
The HYLS1 Gene Hydrolethalus Syndrome Genetic Test identifies mutations in the HYLS1 gene associated with Hydrolethalus syndrome, aiding in diagnosis and management.
PTCH2 Gene Basal Cell Nevus Syndrome Due to Germline PTCH2 Mutation Genetic Test
Genetic test to identify mutations in the PTCH2 gene associated with basal cell nevus syndrome and cancer risk. Uses Next-Generation Sequencing (NGS) technology.
Measles Virus RNA Detection Qualitative Test
Detects the presence of measles virus RNA in samples like blood, urine, or swabs to confirm an active measles infection.
Galactosemia Screening Blood Test
Screening test to detect galactosemia, a rare genetic disorder affecting galactose processing. Early detection is crucial for managing potential health complications.
Nx Gen Sequencing Alexander Disease Test
Advanced genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GFAP gene associated with Alexander Disease, a rare neurological disorder.
CTC1 Gene Coat Plus Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CTC1 gene associated with Coat's Plus Syndrome, an ophthalmology disorder. Helps assess risk and guide management.
Cox6A1 Gene Cmtrid Genetic Test
The Cox6A1 Gene CMTRID NGS Genetic DNA Test uses Next-Generation Sequencing (NGS) to analyze the Cox6A1 gene, helping identify genetic predispositions to certain neurological disorders. This test is valuable for individuals with relevant symptoms or a family history of these conditions.
TMEM216 Gene Joubert Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TMEM216 gene associated with Joubert syndrome type 2, a neurological disorder.
RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B MNGIE Type Genetic Test
Genetic test for mutations in the RRM2B gene, associated with Mitochondrial DNA Depletion Syndrome 8B (MNGIE). Helps diagnose potential neurological disorders.
ULK2 Gene Smith-Magenis Syndrome ULK2 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ULK2 gene associated with Smith-Magenis syndrome. Helps in diagnosing neurological and developmental conditions.
COQ4 Gene Coenzyme Q10 Deficiency Type 7 Genetic Test
Genetic test to identify mutations in the COQ4 gene associated with Coenzyme Q10 deficiency type 7, a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 Genetic Test
The ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 NGS Genetic DNA Test identifies mutations in the ABHD1 gene linked to metabolic disorders. This test uses advanced Next-Generation Sequencing (NGS) technology.
Dnai1 Gene Primary Ciliary Dyskinesia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the Dnai1 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia movement in the respiratory system.
ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ENPP1 gene, aiding in the diagnosis of Autosomal Recessive Hypophosphatemic Rickets Type 2. Recommended for individuals with symptoms or family history related to phosphate metabolism disorders.
ERCC4 Gene Xeroderma Pigmentosum Group F Genetic Test
Genetic test to identify mutations in the ERCC4 gene associated with Xeroderma Pigmentosum (XP), a condition causing extreme sun sensitivity and increased skin cancer risk.
KCNJ1 Gene Bartter Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the KCNJ1 gene associated with Bartter syndrome type 2, a condition affecting kidney function and electrolyte balance.
ACTN1 Gene Bleeding Disorder Platelet-Type 15 Genetic Test
Genetic test analyzing the ACTN1 gene to identify potential causes of inherited bleeding disorders related to platelet function. Utilizes Next Generation Sequencing (NGS) technology.
AHCY Gene Hypermethioninemia with Deficiency of Sadenosylhomocysteine Hydrolase Genetic Test
Genetic test for AHCY gene mutations causing hypermethioninemia, a metabolic disorder. Helps diagnose conditions related to developmental delays and dysmorphology.
CDKN1C Gene Beckwith-Wiedemann Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CDKN1C gene associated with Beckwith-Wiedemann syndrome (BWS). Helps assess risk for overgrowth and certain cancers.
Extended AML Panel BCR/ABL AML/ETO CBFB PML/RARA FLT3 NPM1 CEBPA
A comprehensive genetic test to detect specific genetic abnormalities associated with Acute Myeloid Leukemia (AML), aiding in accurate diagnosis and personalized treatment planning.
LGMD NGS Panel
The LGMD NGS Panel test helps diagnose Limb-Girdle Muscular Dystrophy (LGMD), a group of inherited conditions causing progressive muscle weakness. This genetic test identifies mutations in genes associated with LGMD.
MRSA Methicillinresistant Staphylococcus Aureus Multiplex Detection Differentiation DNA Detection Qualitative Test
Detects the genetic material of Methicillin-resistant Staphylococcus aureus (MRSA), a bacteria resistant to many antibiotics, using a DNA-based test. Essential for early diagnosis and appropriate treatment.
Nx Gen Sequencing Albinism Test
The Nx Gen Sequencing Albinism Test identifies genetic mutations associated with albinism, aiding in diagnosis and management. Confirm with the laboratory before booking.
PAX6 Gene Coloboma of Optic Nerve Genetic Test
Genetic test to identify mutations in the PAX6 gene associated with coloboma of the optic nerve and other eye disorders. Helps in early diagnosis and management.
GJB1 Gene CMTX1 Genetic Test
Genetic test for X-linked Charcot-Marie-Tooth disease (CMTX1) caused by mutations in the GJB1 gene. Helps diagnose neurological disorders and aids in family planning.
TMEM231 Gene Joubert Syndrome Type 20 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the TMEM231 gene associated with Joubert syndrome, a rare neurological disorder. Helps in diagnosis and understanding genetic risks.
MGME1 Gene Mitochondrial DNA Depletion Syndrome Type 11 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MGME1 gene, associated with Mitochondrial DNA Depletion Syndrome Type 11, a neurological disorder.
SACS Gene Spastic Ataxia Charlevoix-Saguenay Type Genetic Test
Genetic test to identify mutations in the SACS gene associated with Spastic Ataxia Charlevoix-Saguenay Type, a neurological disorder affecting coordination and movement.
COQ6 Gene Coenzyme Q10 Deficiency Type 6 Genetic Test
Genetic test to identify mutations in the COQ6 gene associated with Coenzyme Q10 deficiency, a condition affecting cellular energy production. Helps diagnose metabolic disorders.
LPA Gene LPA Deficiency Congenital Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the LPA gene associated with LPA deficiency, a metabolic disorder. Helps identify genetic predispositions and guide management.
DNAAF2 Gene Primary Ciliary Dyskinesia Type 10 Genetic Test
Genetic test to identify mutations in the DNAAF2 gene associated with Primary Ciliary Dyskinesia (PCD) Type 10, using Next Generation Sequencing (NGS).
PHEX Gene Hypophosphatemic Rickets X-Linked Genetic Test
Genetic test to identify mutations in the PHEX gene associated with X-linked hypophosphatemic rickets, a condition affecting phosphate levels and bone health.
ERCC5 Gene Xeroderma Pigmentosum Group G Genetic Test
Genetic test for mutations in the ERCC5 gene associated with Xeroderma Pigmentosum Group G, a condition causing extreme sensitivity to UV light and increased skin cancer risk.
CLCNKB Gene Bartter Syndrome Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CLCNKB gene associated with Bartter Syndrome Type 3, a rare kidney disorder. Helps in diagnosis and management.
RFX5 Gene Bare Lymphocyte Syndrome Type 2 Complementation Group C Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RFX5 gene, associated with Bare Lymphocyte Syndrome Type 2 (BLS), a rare immunodeficiency disorder. Recommended for individuals with relevant symptoms or family history.
PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the PIGV gene associated with Hyperphosphatasia with Mental Retardation Syndrome Type 1. Helps in diagnosing and managing this condition.
OncoDx Panel Genetic Test
The OncoDx Panel NGS Genetic DNA Test uses Next-Generation Sequencing to identify genetic mutations linked to increased cancer risk. This comprehensive test analyzes key genes associated with various cancers, aiding in personalized prevention, monitoring, and treatment strategies.
Factor V Mutation Screening F5 G1691A
This genetic test checks for the Factor V G1691A mutation, which can increase the risk of abnormal blood clotting (thrombosis). It is important for individuals with a personal or family history of blood clots.
TSC1 TSC2 Gene Analysis
The TSC1 TSC2 Gene Analysis identifies mutations in the TSC1 and TSC2 genes linked to Tuberous Sclerosis Complex (TSC). This genetic test helps in early diagnosis and management of the condition.
Nx Gen Sequencing Alkaptonuria Test
The Nx Gen Sequencing Alkaptonuria Test uses advanced genetic analysis to detect mutations associated with Alkaptonuria, a rare inherited metabolic disorder. Early diagnosis is key for managing this condition.
PAX6 Gene Coloboma Ocular Autosomal Dominant Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PAX6 gene associated with ocular coloboma. Helps assess risk for hereditary eye conditions.
AIFM1 Gene CMTX4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the AIFM1 gene for mutations associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), a neurological disorder. Confirm price before booking.
PDE6D Gene Joubert Syndrome Type 22 Genetic Test
A genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PDE6D gene associated with Joubert syndrome, a rare neurological disorder. This test aids in diagnosing the condition in individuals with relevant symptoms or family history.
FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FBXL4 gene, associated with mitochondrial DNA depletion syndromes and neurological disorders.
VAMP1 Gene Spastic Ataxia Type 1 Autosomal Dominant Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the VAMP1 gene associated with Spastic Ataxia Type 1. Helps diagnose and manage neurological disorders.
SLC25A1 Gene Combined D2 and L2-Hydroxyglutaric Aciduria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SLC25A1 gene associated with D-2- and L-2-hydroxyglutaric aciduria, a metabolic disorder. Helps identify genetic predispositions for early diagnosis and management.
ACP2 Gene Lysosomal Acid Phosphatase Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ACP2 gene associated with lysosomal acid phosphatase deficiency, a metabolic disorder. Recommended for individuals with a family history or symptoms.
RSPH9 Gene Primary Ciliary Dyskinesia Type 12 Genetic Test
Genetic test to identify mutations in the RSPH9 gene associated with Primary Ciliary Dyskinesia (PCD) Type 12, a condition affecting respiratory function.
DSC3 Gene Hypotrichosis and Recurrent Skin Vesicles Genetic Test
Genetic test to identify mutations in the DSC3 gene associated with hypotrichosis (hair loss) and recurrent skin vesicles (blisters).
ERCC4 Gene XFE Progeroid Syndrome Genetic Test
Genetic test to identify mutations in the ERCC4 gene associated with progeroid syndromes, aiding in early diagnosis and management.
BSND Gene Bartter Syndrome Type 4a Genetic Test
Genetic test to identify mutations in the BSND gene associated with Bartter syndrome type 4a, a kidney disorder. Uses Next-Generation Sequencing (NGS) technology.
GFI1B Gene Bleeding Disorder Platelet-Type 17 Genetic Test
This genetic test identifies mutations in the GFI1B gene associated with platelet-type bleeding disorders. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PIGO gene associated with Hyperphosphatasia with Mental Retardation Syndrome Type 2. Helps in early diagnosis and management.
H19 Gene Beckwith-Wiedemann Syndrome Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to analyze the H19 gene, helping to identify genetic predispositions associated with Beckwith-Wiedemann syndrome. Early detection can inform management and monitoring strategies.
Factor II Mutation Screening F2 G20210A
Factor II Mutation Screening F2 G20210A is a genetic test to identify the G20210A mutation in the prothrombin gene, which is associated with an increased risk of blood clots. Confirm with the laboratory before booking.
VNTR Chimerism Study POSTBMT
Monitors genetic composition of blood after a stem cell transplant to assess transplant success and recovery. Measures donor versus recipient DNA.
Nx Gen Sequencing Alzheimer's Disease Test
An advanced genetic test using Next Generation Sequencing (NGS) to identify genetic markers associated with Alzheimer's disease risk. Helps in early diagnosis and management.
YAP1 Gene Coloboma Ocular With or Without Hearing Impairment Cleft Lip/Palate and/or Mental Retardation Genetic Test
The YAP1 Gene Coloboma Ocular Test is a genetic DNA test using Next Generation Sequencing (NGS) to identify mutations associated with ocular coloboma, hearing impairment, cleft lip/palate, and mental retardation. This test can help understand the genetic basis of these conditions.
PRPS1 Gene CMTX5 Genetic Test
The PRPS1 Gene CMTX5 NGS Genetic DNA Test identifies mutations in the PRPS1 gene associated with CMTX5, a neurological disorder. This test uses Next-Generation Sequencing (NGS) to help understand genetic predispositions.
CSPP1 Gene Joubert Syndrome Type 21 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CSPP1 gene associated with Joubert syndrome type 21. Helps diagnose this rare neurological disorder.
POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A Genetic Test
Genetic test to identify mutations in the POLG gene associated with Mitochondrial DNA Depletion Syndrome Type 4A, a condition linked to neurological disorders. Confirm price and availability with the laboratory.
KIF1C Gene Spastic Ataxia Type 2 Autosomal Recessive Genetic Test
This genetic test analyzes the KIF1C gene to identify mutations associated with Spastic Ataxia Type 2, an autosomal recessive neurological disorder. It uses Next-Generation Sequencing (NGS) technology.
ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ACSF3 gene associated with Combined Malonic and Methylmalonic Aciduria, a serious metabolic disorder. Early detection aids management.
MLYCD Gene Malonyl-CoA Decarboxylase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MLYCD gene, associated with Malonyl-CoA decarboxylase deficiency. Helps diagnose metabolic disorders.
RSPH4A Gene Primary Ciliary Dyskinesia Type 11 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RSPH4A gene, associated with Primary Ciliary Dyskinesia (PCD). Helps diagnose PCD, a condition affecting respiratory function.
APCDD1 Gene Hypotrichosis Type 1 Genetic Test
Genetic test to identify mutations in the APCDD1 gene associated with Hypotrichosis Type 1, a condition causing sparse hair growth. Uses Next Generation Sequencing (NGS) technology.
POLH Gene Xeroderma Pigmentosum Variant Type Genetic Test
Genetic test to identify mutations in the POLH gene associated with Xeroderma Pigmentosum, a condition causing extreme sun sensitivity and increased skin cancer risk.
NR1H4 Gene Cholestasis Infantile NR1H4 Related Genetic Test
Genetic test to identify mutations in the NR1H4 gene associated with infantile cholestasis, aiding in early diagnosis and management of liver conditions in infants.
P2RY12 Gene Bleeding Disorder Platelet Type 8 Genetic Test
This genetic test identifies mutations in the P2RY12 gene, which can cause inherited bleeding disorders related to platelet function. It uses Next Generation Sequencing (NGS) technology.
PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 Genetic Test
This genetic test identifies mutations in the PGAP2 gene, associated with Hyperphosphatasia with Mental Retardation Syndrome Type 3. It uses Next Generation Sequencing (NGS) technology to provide accurate diagnostic information.
Chr 11p15 Gene Beckwith-Wiedemann Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the chr 11p15 gene, associated with Beckwith-Wiedemann Syndrome and increased cancer risk. Recommended for individuals with a family history or symptoms.
Familial Mediterranean Fever MEFV Full Gene Analysis
Genetic test to identify mutations in the MEFV gene associated with Familial Mediterranean Fever (FMF), a hereditary condition causing recurrent fever and inflammation.
Rubella Viral Load Quantitative Test
Measures the amount of Rubella virus in the body using Real Time RT-PCR. Essential for diagnosing infections, especially in pregnant women, and assessing viral load.
Nx Gen Sequencing Amyotrophic Lateral Sclerosis Test
The Nx Gen Sequencing Amyotrophic Lateral Sclerosis (ALS) Test uses advanced genetic analysis to identify mutations linked to ALS, aiding in diagnosis and management.
Sphingolipidosis Panel 1 Test
The Sphingolipidosis Panel 1 Test helps diagnose rare inherited metabolic disorders affecting sphingolipid storage. It assesses enzyme activity related to conditions like Metachromatic Leukodystrophy and Gaucher Disease.
TENM1 Gene Colobomatous Microphthalmia Genetic Test
Genetic test to identify mutations in the TENM1 gene associated with colobomatous microphthalmia, an eye development disorder. Aids in diagnosis, family planning, and genetic counseling.
CC2D2A Gene COACH Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CC2D2A gene associated with COACH syndrome, a rare neurological disorder. Confirm with the laboratory before booking.
KIAA0586 Gene Joubert Syndrome Type 23 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KIAA0586 gene associated with Joubert syndrome, a rare neurological disorder. Helps confirm diagnosis and guide management.
POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B Genetic Test
Genetic test for POLG gene mutations associated with Mitochondrial DNA Depletion Syndrome Type 4B, a cause of neurological disorders. Uses Next Generation Sequencing (NGS).
MTPAP Gene Spastic Ataxia Type 4 Autosomal Recessive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the MTPAP gene associated with Spastic Ataxia Type 4, an autosomal recessive neurological disorder. Helps identify individuals at risk.
MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 Genetic Test
This genetic test identifies mutations in the MTO1 gene, which can cause Combined Oxidative Phosphorylation Deficiency Type 10, a metabolic disorder affecting energy production. It uses Next-Generation Sequencing (NGS) technology.
MBL2 Gene Mannosebinding Protein Deficiency Genetic Test
Genetic test to identify mutations in the MBL2 gene associated with mannose-binding protein deficiency, aiding in the diagnosis and management of related immune and metabolic conditions.
DNAAF1 Gene Primary Ciliary Dyskinesia Type 13 Genetic Test
This genetic test identifies mutations in the DNAAF1 gene, which can cause Primary Ciliary Dyskinesia (PCD), a condition affecting the cilia in the respiratory system. It helps diagnose chronic respiratory and ENT issues.
SNRPE Gene Hypotrichosis Type 11 Genetic Test
Genetic test analyzing the SNRPE gene to identify mutations associated with Hypotrichosis Type 11, a hair loss disorder. Utilizes Next Generation Sequencing (NGS) technology.
Cardiology Panel Genetic Test
The Cardiology Panel NGS Genetic DNA Test uses Next-Generation Sequencing (NGS) to identify genetic mutations linked to cardiovascular diseases. This test is valuable for individuals with a family history of heart conditions, providing insights into genetic predispositions.
CLCNKA Gene Bartter Syndrome Type 4b Genetic Test
Genetic test to identify mutations in the CLCNKA gene associated with Bartter syndrome Type 4b, aiding in diagnosis and management.
SRP72 Gene Bone Marrow Failure Syndrome Type 1 Genetic Test
This genetic test identifies mutations in the SRP72 gene associated with bone marrow failure syndrome. It uses Next-Generation Sequencing (NGS) technology to analyze DNA from a blood sample.
PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PIGW gene associated with Hyperphosphatasia with Mental Retardation Syndrome Type 5. Helps confirm diagnosis and guide management.
KCNQ1OT1 Gene Beckwith-Wiedemann Syndrome Genetic Test
Genetic test for mutations in the KCNQ1OT1 gene associated with Beckwith-Wiedemann Syndrome (BWS), a growth disorder. Helps in diagnosis and management.
VNTR Chimerism Study Pre BMT
The VNTR Chimerism Study Pre BMT assesses genetic compatibility before a bone marrow transplant, helping to ensure successful integration of donor cells. This test is essential for planning and monitoring transplant procedures.
Nx Gen Sequencing Ataxiatelangiectasia Test
The Nx Gen Sequencing Ataxiatelangiectasia Test uses advanced genetic analysis to identify mutations in the ATM gene associated with ataxiatelangiectasia. This test aids in the diagnosis and management of this genetic disorder.
Sphingolipidosis Panel 2 Test
The Sphingolipidosis Panel 2 Test helps diagnose Gaucher Disease and Niemann Pick Disease, types of inborn errors of metabolism. This test measures specific enzyme activity in the blood.
UNC119 Gene Cone-Rod Dystrophy Genetic Test
This genetic test identifies mutations in the UNC119 gene associated with cone-rod dystrophy, a condition causing progressive vision loss. It helps understand genetic predisposition to eye disorders.
TMEM67 Gene COACH Syndrome Genetic Test
Genetic test to identify mutations in the TMEM67 gene associated with COACH syndrome, a rare neurological disorder. Helps understand genetic risk and inform health management.
TCTN2 Gene Joubert Syndrome Type 24 Genetic Test
Genetic test to identify mutations in the TCTN2 gene associated with Joubert syndrome, a neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
MPV17 Gene Mitochondrial DNA Depletion Syndrome Type 6 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MPV17 gene, associated with mitochondrial DNA depletion syndrome type 6. Helps diagnose neurological disorders.
MARS2 Gene Spastic Ataxia Type 3 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the MARS2 gene associated with Spastic Ataxia Type 3, an autosomal recessive neurological disorder. Helps diagnose and manage the condition.
GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GFM1 gene associated with Combined Oxidative Phosphorylation Deficiency Type 1, aiding in the diagnosis of metabolic disorders.
MANBAL Gene Mannosidosis Beta A Lysosomal-Like Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MANBAL gene associated with Mannosidosis Beta A, a rare metabolic disorder. Helps in early diagnosis and management.
CCDC39 Gene Primary Ciliary Dyskinesia Type 14 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CCDC39 gene associated with Primary Ciliary Dyskinesia (PCD) Type 14. Helps diagnose genetic causes of respiratory issues.
RPL21 Gene Hypotrichosis Type 12 Genetic Test
The RPL21 Gene Hypotrichosis Type 12 Genetic Test uses Next Generation Sequencing (NGS) to identify genetic mutations linked to hypotrichosis (sparse hair growth). This test helps understand the genetic basis of certain hair loss conditions.
FOXF1 Gene Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FOXF1 gene associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MVP).
UGT1A1 Gene Crigler-Najjar Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the UGT1A1 gene associated with Crigler-Najjar syndrome type 2, a rare disorder affecting bilirubin metabolism.
ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Genetic Test
This genetic test analyzes the ERCC6L2 gene to identify mutations associated with bone marrow failure syndrome type 2. It uses Next-Generation Sequencing (NGS) technology.
DCAF17 Gene Hypogonadism Alopecia Diabetes Mellitus Mental Retardation and Extrapyramidal Syndrome Genetic Test
Genetic test analyzing the DCAF17 gene to identify variations associated with hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
BRAF Gene BRAF Selective Sequencing of Exon 15 Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to detect specific mutations in the BRAF gene (exon 15), which are linked to certain cancers like melanoma, colorectal, and thyroid cancer. It helps guide personalized cancer treatment.
Fetal Blood for Karyotyping
Fetal Blood for Karyotyping analyzes fetal chromosomes to identify potential genetic abnormalities early in pregnancy. This test is recommended for expectant mothers with specific risk factors.
Warfarin Therapeutic Response Predictive Assay VKORC1 CYP2C9
Genetic test to predict individual response to warfarin, helping optimize dosage and reduce risks. Essential for personalized anticoagulation therapy.
Genetic Test Counselling
Genetic Test Counselling provides expert guidance to understand genetic health risks, especially during pregnancy, aiding informed decision-making. KSh 800.
Alpha Thalassemia HBA1 HBA2 Deletion/Duplication Analysis Test
Identifies genetic deletions or duplications in the HBA1 and HBA2 genes associated with alpha thalassemia, a blood disorder affecting hemoglobin production. Confirm with the laboratory before booking.
Nx Gen Sequencing Bethlem Myopathy Myofibrillar Myopathy Ullrich Muscular Dystrophy Test
This genetic test uses Next Generation Sequencing (NGS) to help diagnose Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy, conditions causing muscle weakness and joint issues. It analyzes key genes associated with these disorders.
Sphingolipidosis Panel 3 Test
The Sphingolipidosis Panel 3 Test helps diagnose rare metabolic disorders like GM1 Gangliosidosis, Gaucher Disease, and Niemann Pick Disease. This test is important for individuals showing related symptoms.
AIPL1 Gene Cone-Rod Dystrophy Genetic Test
The AIPL1 Gene Cone-Rod Dystrophy NGS Genetic DNA Test identifies mutations in the AIPL1 gene linked to inherited retinal disorders, aiding in the diagnosis of progressive vision loss. Confirm with the laboratory before booking.
PDSS1 Gene Coenzyme Q10 Deficiency Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PDSS1 gene associated with Coenzyme Q10 Deficiency Type 2, which can cause neurological disorders.
AHI1 Gene Joubert Syndrome Type 3 Genetic Test
The AHI1 Gene Joubert Syndrome Type 3 NGS Genetic DNA Test uses Next-Generation Sequencing (NGS) to analyze the AHI1 gene. This test helps identify genetic mutations associated with Joubert syndrome type 3, a rare neurological disorder.
TWNK Gene Mitochondrial DNA Depletion Syndrome Type 7 Genetic Test
Genetic test for Mitochondrial DNA Depletion Syndrome Type 7, caused by mutations in the TWNK gene. Uses Next-Generation Sequencing (NGS) to identify genetic changes linked to neurological disorders.
AFG3L2 Gene Spastic Ataxia Type 5 Autosomal Recessive Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the AFG3L2 gene associated with Spastic Ataxia Type 5, an autosomal recessive neurological disorder.
RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RMND1 gene associated with Combined Oxidative Phosphorylation Deficiency Type 11, a metabolic disorder. Recommended for individuals with relevant symptoms or family history. Confirm with the laboratory before booking.
MAN2B1 Gene Mannosidosis-Alpha Genetic Test
Genetic test to identify mutations in the MAN2B1 gene, associated with Mannosidosis-alpha, a rare metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
CCDC40 Gene Primary Ciliary Dyskinesia Type 15 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CCDC40 gene, associated with Primary Ciliary Dyskinesia (PCD) Type 15. Helps diagnose conditions affecting respiratory function.
KRT71 Gene Hypotrichosis Type 13 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KRT71 gene for mutations associated with hypotrichosis type 13, a condition causing hair loss. Helps identify genetic factors contributing to hair thinning.
Pulmonary Panel Genetic Test
The Pulmonary Panel NGS Genetic DNA Test uses Next-Generation Sequencing (NGS) to screen for genetic mutations linked to cardiovascular and pulmonary disorders. This test can help identify genetic predispositions, aiding in early diagnosis and personalized management.
UGT1A1 Gene Crigler-Najjar Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the UGT1A1 gene for mutations associated with Crigler-Najjar syndrome type 1, a rare disorder affecting bilirubin metabolism.
HBG2 Gene Cyanosis Transient Neonatal Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the HBG2 gene associated with transient neonatal cyanosis. Helps identify potential risks for early diagnosis and management.
TTC7A Gene Intestinal Atresia Multiple Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TTC7A gene associated with intestinal atresia. Helps in early diagnosis and management of this congenital condition in pediatric patients.
RINT1 Gene Breast Cancer RINT1 Related Genetic Test
The RINT1 Gene Breast Cancer test uses Next-Generation Sequencing (NGS) to analyze genetic variations in the RINT1 gene, which may be linked to an increased risk of breast cancer. This test provides valuable insights for proactive health management.
Williams Syndrome FISH
The Williams Syndrome FISH test detects chromosomal abnormalities associated with Williams Syndrome, a genetic condition affecting development. This test uses Fluorescence In Situ Hybridization (FISH) technology to identify specific deletions on chromosome 7. Confirm with the laboratory before booking.
Nx Gen Sequencing Canavan Disease Test
The Nx Gen Sequencing Canavan Disease Test uses advanced genetic analysis to detect mutations in the ASPA gene associated with Canavan disease, a rare neurological disorder. This test is important for diagnosis, especially for individuals with relevant symptoms or family history.
Spinal Muscular Atrophy SMA Mutation Detection Test
Detects mutations in the SMN1 gene associated with Spinal Muscular Atrophy (SMA), a genetic disorder affecting motor neurons. Early diagnosis enables timely management.
RAX2 Gene Cone-Rod Dystrophy Type 11 Genetic Test
Genetic test analyzing the RAX2 gene to identify mutations linked to Cone-Rod Dystrophy Type 11, a hereditary vision disorder. Uses Next-Generation Sequencing (NGS) technology.
COQ2 Gene Coenzyme Q10 Deficiency Type 1 Genetic Test
This genetic test identifies mutations in the COQ2 gene, which can cause Coenzyme Q10 deficiency leading to neurological disorders. It uses Next Generation Sequencing (NGS) technology.
NPHP1 Gene Joubert Syndrome Type 4 Genetic Test
Genetic test to identify mutations in the NPHP1 gene associated with Joubert syndrome, a rare neurological disorder. Utilizes Next Generation Sequencing (NGS) technology.
MFF Gene Mitochondrial Encephalomyopathy Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to identify mutations in the MFF gene, which are linked to mitochondrial encephalomyopathy, a condition affecting the nervous system and muscles. Confirm with the laboratory before booking.
ALS2 Gene Spastic Paralysis Infantile Onset Ascending Genetic Test
This genetic test analyzes the ALS2 gene to help identify the cause of infantile onset spastic paralysis, a neurological disorder. It uses Next Generation Sequencing (NGS) technology.
EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 Genetic Test
Genetic test to identify mutations in the EARS2 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 12, a metabolic disorder. Helps in diagnosis and management.
BCKDHA Gene Maple Syrup Urine Disease Type 1A Genetic Test
Genetic test for Maple Syrup Urine Disease (MSUD) Type 1A, caused by mutations in the BCKDHA gene. Uses Next Generation Sequencing (NGS) for comprehensive analysis.
CCDC103 Gene Primary Ciliary Dyskinesia Type 17 Genetic Test
Genetic test to identify mutations in the CCDC103 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting the respiratory system.
CDSN Gene Hypotrichosis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CDSN gene associated with hypotrichosis (sparse hair growth). Helps understand genetic factors contributing to hair loss.
TGFB3 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 1 Genetic Test
This genetic test analyzes the TGFB3 gene to identify mutations linked to Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a serious heart condition. Understanding your genetic risk is key for early management.
RXFP2 Gene Cryptorchidism Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RXFP2 gene associated with cryptorchidism (undescended testes).
Piezo1 Gene Dehydrated Hereditary Stomatocytosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PIEZO1 gene associated with dehydrated hereditary stomatocytosis. Helps diagnose and understand this rare blood disorder.
CDKN1C Gene IMAGE Syndrome Genetic Test
The CDKN1C Gene IMAGE Syndrome NGS Genetic DNA Test analyzes the CDKN1C gene using Next Generation Sequencing (NGS) to help diagnose genetic conditions associated with dysmorphology. This test provides valuable insights for early intervention and management.
BARD1 Gene Breast Cancer Susceptibility to Genetic Test
Genetic test to assess breast cancer risk associated with the BARD1 gene, recommended for individuals with a family history of breast cancer.
WS1 Full Gene Sequence Analysis Wolfram Syndrome DIDMOAD
Comprehensive genetic testing for Wolfram Syndrome (DIDMOAD) to identify mutations in the WFS1 gene. Helps diagnose the condition and inform management.
Limbgirdle Muscular Dystrophy
Genetic test to help diagnose Limbgirdle Muscular Dystrophy (LGMD), a group of disorders causing progressive muscle weakness in the hips and shoulders. Early diagnosis aids management.
Whole Exome Sequencing Chromosomal Microarray
A comprehensive genetic test analyzing the exome (protein-coding regions of DNA) to identify genetic variations associated with various disorders. This test provides detailed insights into hereditary conditions.
Nx Gen Sequencing Cataract Test
The Nx Gen Sequencing Cataract Test uses advanced genetic analysis to identify factors linked to cataract development. This test helps understand individual risk and informs eye care decisions.
Spinal Muscular Atrophy SMA Carrier Detection Test
Identifies carriers of the Spinal Muscular Atrophy (SMA) gene mutation. Important for family planning if there is a history of SMA.
PROM1 Gene Cone-Rod Dystrophy Type 12 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PROM1 gene associated with Cone-Rod Dystrophy Type 12, a cause of progressive vision loss.
PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the PDSS2 gene, associated with Coenzyme Q10 deficiency and neurological disorders.
CEP290 Gene Joubert Syndrome Type 5 Genetic Test
The CEP290 Gene Joubert Syndrome Type 5 NGS Genetic DNA Test identifies mutations in the CEP290 gene associated with Joubert syndrome type 5, a rare genetic disorder affecting brain development. This test uses Next-Generation Sequencing (NGS) technology.
SUCLG1 Gene Mitochondrial DNA Depletion Syndrome Encephalomyopathic Type with Methylmalonic Aciduria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the SUCLG1 gene for Mitochondrial DNA Depletion Syndrome Encephalomyopathic Type with Methylmalonic Aciduria, aiding in the diagnosis of specific neurological and metabolic disorders.
IBA57 Gene Spastic Paraplegia Type 74 Autosomal Recessive Genetic Test
Genetic test to identify mutations in the IBA57 gene associated with Spastic Paraplegia Type 74, an autosomal recessive neurological disorder.
PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 Genetic Test
This genetic test identifies mutations in the PNPT1 gene, which can cause Combined Oxidative Phosphorylation Deficiency Type 13, a metabolic disorder. It uses Next Generation Sequencing (NGS) technology.
MANBA Gene Mannosidosis-beta Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MANBA gene associated with Mannosidosis-beta, a rare metabolic disorder. Helps in diagnosis and management.
Dnal1 Gene Primary Ciliary Dyskinesia Type 16 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DNAL1 gene associated with primary ciliary dyskinesia (PCD). Helps diagnose PCD, understand genetic risks, and guide treatment.
KRT74 Gene Hypotrichosis Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the KRT74 gene for mutations associated with Hypotrichosis Type 3, a condition causing abnormal hair growth. Recommended for individuals with unexplained hair loss or a family history of the condition.
Dsg2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 10 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DSG2 gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). Helps assess risk for individuals with family history or symptoms.
PREPL Gene Cystinuria Genetic Test
The PREPL Gene Cystinuria NGS Genetic DNA Test identifies genetic mutations linked to cystinuria, a condition affecting the kidneys. This test helps individuals understand their risk and allows for proactive management.
HBB Gene Deltabeta Thalassemia Genetic Test
The HBB Gene Delta-beta Thalassemia NGS Genetic DNA Test identifies mutations in the HBB gene linked to Delta-beta thalassemia using Next Generation Sequencing (NGS). This test is important for individuals with a family history of thalassemia or related blood disorders.
SALL4 Gene IVIC Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SALL4 gene, associated with IVIC syndrome and dysmorphology. Confirm with the laboratory before booking.
PALB2 Gene Breast Cancer Susceptibility to Genetic Test
Assess your risk for breast cancer with the PALB2 Gene test. This genetic analysis identifies mutations in the PALB2 gene, which can significantly increase susceptibility. Recommended for individuals with a family history of breast or ovarian cancer.
X Y Identification
The X Y Identification Test helps identify specific genetic conditions using advanced FISH technology on a blood sample. Recommended for individuals at risk of genetic disorders or with concerning symptoms. Requires a doctor's prescription.
IgVH Hypermutation Analysis Confirmatory Test
The IgVH Hypermutation Analysis Confirmatory Test helps diagnose and manage leukemia by analyzing genetic mutations in immunoglobulin heavy chain variable region (IgVH) genes. This test provides crucial insights for treatment decisions.
Nx Gen Sequencing Charcot-Marie-Tooth Disease Sensory Neuropathies Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations associated with Charcot-Marie-Tooth disease (CMT) and sensory neuropathies. Helps diagnose hereditary motor and sensory neuropathy.
Spinobulbar Muscular Atrophy Test
The Spinobulbar Muscular Atrophy Test helps diagnose a rare neurological disorder by identifying mutations in the AR gene. Early diagnosis is key for management.
RPGRIP1 Gene Cone-Rod Dystrophy Type 13 Genetic Test
Genetic test to identify mutations in the RPGRIP1 gene, associated with Cone-Rod Dystrophy Type 13, a condition causing progressive vision loss. Recommended for individuals with unexplained vision loss or a family history of inherited eye disorders.
COQ9 Gene Coenzyme Q10 Deficiency Type 5 Genetic Test
Genetic test to identify mutations in the COQ9 gene associated with Coenzyme Q10 deficiency, a condition linked to neurological disorders. Uses Next Generation Sequencing (NGS) technology.
RPGRIP1L Gene Joubert Syndrome Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RPGRIP1L gene associated with Joubert syndrome type 7, a neurological disorder. Confirm with the laboratory before booking.
MTCYB Gene Mitochondrial Encephalomyopathy Genetic Test
Genetic test for mutations in the MTCYB gene associated with mitochondrial encephalomyopathy, a neurological disorder. Helps diagnose and manage conditions linked to mitochondrial dysfunction.
L1CAM Gene SPG1 Genetic Test
The L1CAM Gene SPG1 NGS Genetic DNA Test identifies mutations in the L1CAM gene associated with neurological disorders. This test uses Next Generation Sequencing (NGS) to help diagnose conditions and inform management strategies.
FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FARS2 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 14. Helps diagnose metabolic disorders.
BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test
Genetic test to identify mutations in the BCKDHB gene associated with Maple Syrup Urine Disease (MSUD) Type 1b, using Next Generation Sequencing (NGS).
Lrrc6 Gene Primary Ciliary Dyskinesia Type 19 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the Lrrc6 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia movement and respiratory health.
HR Gene Hypotrichosis Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the HR gene associated with hypotrichosis type 4, a condition causing sparse hair growth. Helps understand genetic factors influencing hair loss.
DSC2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 11 Genetic Test
Genetic test analyzing the DSC2 gene to identify predispositions to Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a condition affecting the heart muscle.
SLC3A1 Gene Cystinuria Genetic Test
Genetic test to identify mutations in the SLC3A1 gene associated with cystinuria, a condition causing kidney stones. Uses Next-Generation Sequencing (NGS) technology.
RPS28 Gene Diamond Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the RPS28 gene, associated with Diamond Blackfan Anemia Type 15 and Mandibulofacial Dysostosis. Helps in diagnosing this rare blood disorder.
FGFR2 Gene Jackson-Weiss Syndrome Genetic Test
Genetic test analyzing the FGFR2 gene to identify mutations associated with Jackson-Weiss syndrome, a condition causing specific skeletal abnormalities.
Recql Gene Breast Cancer Susceptibility to Genetic Test
The Recql Gene Breast Cancer Susceptibility Test uses Next-Generation Sequencing (NGS) to identify mutations in the RECQL gene associated with an increased risk of breast cancer. This test provides valuable information for individuals concerned about their genetic predisposition.
Limbgirdle Muscular Dystrophy LGMD
The Limbgirdle Muscular Dystrophy (LGMD) test helps identify genetic mutations linked to this group of muscle disorders, aiding in diagnosis and management.
Pneumonia Plus Advantage Test
The Pneumonia Plus Advantage Test helps diagnose respiratory disorders like pneumonia and tuberculosis using advanced multiplex PCR technology. Recommended for individuals with respiratory symptoms.
Nx Gen Sequencing Comprehensive Epilepsy Test
A genetic test using Next-Generation Sequencing (NGS) to identify potential genetic causes of epilepsy by analyzing numerous associated genes. This can aid in diagnosis and personalized treatment.
Sputum Examination AFB Test
Detects the presence of Mycobacterium tuberculosis bacteria in sputum samples using staining techniques to aid in the diagnosis of tuberculosis (TB).
GUCA1A Gene Cone-Rod Dystrophy Type 14 Genetic Test
This genetic test identifies mutations in the GUCA1A gene associated with Cone-Rod Dystrophy Type 14, a condition causing severe vision loss. It uses Next Generation Sequencing (NGS) technology for accurate detection.
RPS6KA3 Gene Coffin-Lowry Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RPS6KA3 gene, associated with Coffin-Lowry syndrome. Helps diagnose neurological disorders.
TMEM67 Gene Joubert Syndrome Type 6 Genetic Test
This genetic test identifies mutations in the TMEM67 gene, associated with Joubert syndrome, a rare neurological disorder. It aids in diagnosis and management.
PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PUS1 gene associated with mitochondrial myopathy and sideroblastic anemia. Helps diagnose these conditions and guide treatment.
KIF5A Gene SPG10 Genetic Test
The KIF5A Gene SPG10 NGS Genetic DNA Test uses Next-Generation Sequencing to identify mutations in the KIF5A gene, which are linked to certain neurological disorders. This test aids in diagnosis and management.
Mtfmt Gene Combined Oxidative Phosphorylation Deficiency Type 15 Genetic Test
This genetic test identifies mutations in the MTFMT gene, which is linked to Combined Oxidative Phosphorylation Deficiency Type 15, a metabolic disorder affecting mitochondrial function. It helps diagnose conditions related to energy production in cells.
DLD Gene Maple Syrup Urine Disease Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the DLD gene associated with Maple Syrup Urine Disease (MSUD) type 3, a rare metabolic disorder. Early detection aids in management.
DNAAF5 Gene Primary Ciliary Dyskinesia Type 18 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the DNAAF5 gene for mutations associated with Primary Ciliary Dyskinesia (PCD).
DSG4 Gene Hypotrichosis Type 6 Genetic Test
Genetic test to identify mutations in the DSG4 gene associated with Hypotrichosis Type 6, a condition causing hair loss. Utilizes Next Generation Sequencing (NGS) for accurate diagnosis.
JUP Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 12 Genetic Test
Genetic test to identify mutations in the JUP gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a genetic heart condition. Helps assess risk for individuals with relevant family history or symptoms.
SLC7A9 Gene Cystinuria Genetic Test
Genetic test for mutations in the SLC7A9 gene associated with cystinuria, a condition causing kidney stones. Helps diagnose and manage the disorder.
RPS19 Gene Diamond-Blackfan Anemia Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RPS19 gene associated with Diamond-Blackfan Anemia (DBA), a rare blood disorder. Helps confirm diagnosis and inform treatment.
FGFR1 Gene Jackson-Weiss Syndrome Genetic Test
Genetic test to identify mutations in the FGFR1 gene associated with Jackson-Weiss syndrome, a condition affecting bone development. Confirm with the laboratory before booking.
XRCC3 Gene Breast Cancer Susceptibility to Genetic Test
Assess your genetic predisposition to breast cancer with the XRCC3 Gene Breast Cancer Susceptibility test using advanced NGS technology. Recommended for individuals with a family history of breast cancer.
Y Chromosome Microdeletion 16 Mutations
This genetic test checks for specific microdeletions on the Y chromosome that can affect male fertility, particularly sperm production. It is recommended for men experiencing infertility or those with a family history of the condition.
Pneumonia Plus Panel Test
The Pneumonia Plus Panel Test identifies 27 common pathogens causing pneumonia, including bacteria, viruses, and antimicrobial resistance genes. This comprehensive test helps guide effective treatment.
Genetic Counselling Test
Genetic counselling helps individuals understand their risk for inherited conditions based on family history and personal health information. This service guides informed health decisions.
IgVH Mutation Detection Screening Test
The IgVH Mutation Detection Screening Test helps identify mutations in the IgVH gene, aiding in the diagnosis and management of leukemia. This test provides valuable information for treatment decisions.
Nx Gen Sequencing Corneal Dystrophy Test
Identify genetic mutations linked to corneal dystrophies using advanced Next Generation Sequencing (NGS). This test helps understand the cause of vision problems like blurred vision and light sensitivity.
CDHR1 Gene Cone-Rod Dystrophy Type 15 Genetic Test
This genetic test identifies mutations in the CDHR1 gene, associated with cone-rod dystrophy, a condition causing vision impairment. It uses Next Generation Sequencing (NGS) technology.
CNTN1 Gene ComptonNorth Congenital Myopathy Genetic Test
Genetic test to identify mutations in the CNTN1 gene, associated with congenital myopathy, a condition affecting muscle strength and function.
ARL13B Gene Joubert Syndrome Type 8 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ARL13B gene associated with Joubert Syndrome Type 8, a rare neurological disorder. Confirm with the laboratory before booking.
POLG Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy Genetic Test
Genetic test for mutations in the POLG gene associated with Mitochondrial Neurogastrointestinal Encephalopathy Syndrome without Leukoencephalopathy, a neurological disorder.
SPG11 Gene SPG11 Genetic Test
The SPG11 Gene Genetic Test identifies mutations in the SPG11 gene associated with certain neurological disorders, like hereditary spastic paraplegia. This test uses Next Generation Sequencing (NGS) technology.
MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 Genetic Test
This genetic test analyzes the MRPL44 gene to help diagnose Combined Oxidative Phosphorylation Deficiency Type 16, a metabolic disorder affecting energy production. It uses Next Generation Sequencing (NGS) technology.
DBT Gene Maple Syrup Urine Disease Type 2 Genetic Test
Genetic test to identify mutations in the DBT gene associated with Maple Syrup Urine Disease Type 2 (MSUD2), a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
DNAAF3 Gene Primary Ciliary Dyskinesia Type 2 Genetic Test
Genetic test to identify mutations in the DNAAF3 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia function and causing chronic respiratory issues.
Lpar6 Gene Hypotrichosis Type 8 Genetic Test
Genetic test to identify mutations in the LPAR6 gene associated with hypotrichosis (abnormal hair growth). Uses Next-Generation Sequencing (NGS) technology.
PKP2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 9 Genetic Test
Genetic test analyzing the PKP2 gene to identify mutations associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a serious heart condition. Recommended for individuals with a family history or symptoms.
CLCN5 Gene Dent Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CLCN5 gene for diagnosing Dent disease, a rare kidney disorder. Helps identify genetic risk and inform family planning.
RPL26 Gene Diamond-Blackfan Anemia Type 11 Genetic Test
Genetic test to identify mutations in the RPL26 gene associated with Diamond-Blackfan Anemia (DBA), a rare blood disorder causing anemia. Uses Next Generation Sequencing (NGS) technology.
RBBP8 Gene Jawad Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the RBBP8 gene associated with Jawad Syndrome. Helps in diagnosing genetic disorders and guiding medical decisions.
RAD51C Gene Breast-Ovarian Cancer Genetic Test
Assess your genetic risk for breast and ovarian cancer with the RAD51C Gene NGS Genetic DNA Test. Understanding your predisposition can help guide preventative health measures.
NIFTY NonInvasive Prenatal Testing (NIPT) Test
The NIFTY NonInvasive Prenatal Testing (NIPT) Test is a safe, non-invasive screening test for pregnant women to assess the risk of common chromosomal conditions like Down Syndrome, Edward Syndrome, and Patau Syndrome in the fetus using a maternal blood sample.
Biotinidase Newborn Screen Test
The Biotinidase Newborn Screen Test checks for biotinidase deficiency, a rare inherited metabolic disorder in newborns. Early detection is crucial for preventing serious health issues.
Gaucher Disease Quantitative Blood Test
This test measures the activity of the glucocerebrosidase enzyme in the blood to help diagnose Gaucher disease, a rare inherited metabolic disorder. Confirm with the laboratory before booking.
Imatinib Resistance Mutation Analysis IRMA Test
The Imatinib Resistance Mutation Analysis IRMA Test helps patients with Chronic Myeloid Leukemia (CML) undergoing imatinib therapy. It identifies mutations in the BCR-ABL gene that may cause resistance to treatment, guiding effective disease management.
Nx Gen Sequencing Dementia Test
The Nx Gen Sequencing Dementia Test uses advanced genetic analysis to identify factors associated with dementia. This test can help individuals with a family history or early symptoms understand their risk and guide management.
CD3G Gene Cone-Rod Dystrophy Type 17 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CD3G gene associated with Cone-Rod Dystrophy Type 17, a rare inherited eye disorder causing progressive vision loss. Helps with early diagnosis and management.
VPS13B Gene Cohen Syndrome Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify mutations in the VPS13B gene, associated with Cohen syndrome and other neurological conditions. Confirm with the laboratory before booking.
Exoc8 Gene Joubert Syndrome Exoc8 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the EXOC8 gene associated with Joubert syndrome, a neurological disorder. Useful for diagnosis and family planning.
TYMP Gene Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy Genetic Test
This genetic test analyzes the TYMP gene to identify mutations associated with Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Without Leukoencephalopathy, a rare neurological disorder. Confirm with the laboratory before booking.
HSPD1 Gene SPG13 Genetic Test
The HSPD1 Gene SPG13 NGS Genetic DNA Test identifies mutations in the HSPD1 gene linked to neurological disorders like hereditary spastic paraplegia (HSP). This test uses Next-Generation Sequencing (NGS) technology for accurate analysis.
ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 Genetic Test
Genetic test to identify mutations in the ELAC2 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 17. Helps diagnose metabolic disorders.
Ppm1k Gene Maple Syrup Urine Disease Mild Variant Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PPM1K gene associated with the mild variant of Maple Syrup Urine Disease (MSUD).
ARMC4 Gene Primary Ciliary Dyskinesia Type 23 Genetic Test
Genetic test to identify mutations in the ARMC4 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting the respiratory system. Uses Next-Generation Sequencing (NGS) technology.
LIPH Gene Hypotrichosis Type 7 Genetic Test
Genetic test to identify mutations in the LIPH gene associated with Hypotrichosis Type 7, a condition causing hair loss. Uses Next-Generation Sequencing (NGS) technology.
Ryr2 Gene Arrhythmogenic Right Ventricular Dysplasia Type 2 Genetic Test
Genetic test to identify mutations in the RYR2 gene associated with Arrhythmogenic Right Ventricular Dysplasia (ARVD), a condition affecting heart rhythm.
AQP2 Gene Diabetes Insipidus Nephrogenic Autosomal Genetic Test
This genetic test identifies mutations in the AQP2 gene associated with nephrogenic diabetes insipidus, a condition affecting kidney function. Confirm with the laboratory before booking.
RPS29 Gene Diamond-Blackfan Anemia Type 13 Genetic Test
Genetic test to identify mutations in the RPS29 gene associated with Diamond-Blackfan anemia (DBA), a rare blood disorder. Useful for diagnosis and family planning.
KMT2D Gene Kabuki Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the KMT2D gene associated with Kabuki syndrome type 1. Helps diagnose this rare genetic disorder characterized by distinctive facial features and developmental delays.
CALR Gene CALR Selective Sequencing of Exon 9 Genetic Test
This genetic test analyzes the CALR gene, specifically exon 9, using Next Generation Sequencing (NGS) to identify mutations associated with certain blood cancers. It helps inform diagnosis and treatment decisions.
Clinical Exome Next Generation Sequencing Test
The Clinical Exome Next Generation Sequencing Test analyzes approximately 9,300 genes linked to known clinical conditions, aiding in diagnosing complex genetic disorders and unexplained symptoms.
Biotinidase Activity Quantitative Blood Test
The Biotinidase Activity Quantitative Blood Test measures biotinidase enzyme activity to detect biotinidase deficiency, a metabolic disorder. Early diagnosis is crucial for managing this condition, especially in children.
Genetic Mapping for Cardiovascular Disorders Test
Assess your genetic predisposition to heart diseases with our Genetic Mapping for Cardiovascular Disorders Test. Identify risks early for better prevention and management.
IMD Panel Extended Test
The IMD Panel Extended Test helps identify inborn errors of metabolism (IEM) by analyzing amino acids, organic acids, and acylcarnitines. Recommended for pediatric patients with potential metabolic disorders.
Nx Gen Sequencing Dravets Syndrome Early Infantile Epileptic Encephalopathy Test
A genetic test using next-generation sequencing to identify mutations associated with Dravet syndrome and related early infantile epileptic encephalopathies, aiding in diagnosis and treatment planning.
CRX Gene Cone-Rod Dystrophy Type 2 Genetic Test
Genetic test to identify mutations in the CRX gene associated with Cone-Rod Dystrophy Type 2, a hereditary retinal disorder causing progressive vision loss.
B3GALNT2 Gene Congenital Muscular Dystrophy and Hypoglycosylation of Dystroglycan Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the B3GALNT2 gene, associated with congenital muscular dystrophy and hypoglycosylation of dystroglycan. Helps diagnose specific genetic conditions affecting muscle function.
CC2D2A Gene Joubert Syndrome Type 9 Genetic Test
Genetic test to identify mutations in the CC2D2A gene associated with Joubert syndrome type 9, a neurological disorder. Helps in diagnosis and family planning.
SDHA Gene Mitochondrial Respiratory Chain Complex II Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SDHA gene, associated with mitochondrial respiratory chain complex II deficiency and neurological disorders.
RTN2 Gene SPG12 Genetic Test
The RTN2 Gene SPG12 NGS Genetic DNA Test identifies mutations in the RTN2 gene linked to neurological disorders, aiding in diagnosis and management.
SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 Genetic Test
The SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 NGS Genetic DNA Test helps identify genetic mutations linked to metabolic disorders affecting energy production. This test uses advanced Next Generation Sequencing (NGS) technology to analyze the SFXN4 gene.
HNF4A Gene Maturity-Onset Diabetes of the Young Type 1 Genetic Test
This genetic test identifies mutations in the HNF4A gene, linked to Maturity-Onset Diabetes of the Young (MODY) Type 1. It helps understand genetic risk and guide diabetes management.
Ccdc114 Gene Primary Ciliary Dyskinesia Type 20 Genetic Test
Genetic test to identify mutations in the CCDC114 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia movement and causing respiratory issues.
AloxE3 Gene Ichthyosiform Erythroderma Congenital Nonbullous Type 1 Genetic Test
Genetic test to identify mutations in the AloxE3 gene associated with congenital nonbullous ichthyosiform erythroderma, a type of skin disorder. Uses Next Generation Sequencing (NGS) technology.
SCN5A Gene Atrial Fibrillation Type 10 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the SCN5A gene associated with atrial fibrillation (AF), a common heart rhythm disorder. Helps in understanding genetic risk and guiding management.
ICK Gene Endocrinecerebroosteodysplasia Genetic Test
Genetic test analyzing the ICK gene for conditions affecting endocrine, cerebro, and bone health. Helps diagnose genetic disorders and inform treatment.
RPL15 Gene DiamondBlackfan Anemia Type 12 Genetic Test
This genetic test identifies mutations in the RPL15 gene, associated with Diamond-Blackfan anemia, a rare blood disorder. It helps confirm diagnosis and guide management.
Paternal UPD Chr 14 Gene Kagami-Ogata Syndrome Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to detect paternal uniparental disomy (UPD) of chromosome 14, which is associated with Kagami-Ogata syndrome. It helps identify genetic factors contributing to developmental and health issues.
SDHD Gene Carcinoid Tumors Intestinal Genetic Test
This genetic test analyzes the SDHD gene to identify potential risks for developing carcinoid tumors, particularly those in the intestinal tract. It uses Next Generation Sequencing (NGS) technology.
ABL Gene Load Test
The ABL Gene Load Test measures the amount of viral RNA in the blood to monitor viral infections and the effectiveness of antiviral treatments. This test helps healthcare providers manage patient care effectively.
Sugar Beets
The Sugar Beets test detects genetically modified organisms (GMOs) in sugar beet products, helping consumers make informed dietary choices.
Genetic Mapping for Gynecological Disorders Test
Understand your genetic risk for gynecological conditions with our Genetic Mapping for Gynecological Disorders Test. This test uses SNP Genotyping to identify potential predispositions, aiding in proactive health management.
Imd Panel Quantitative Blood Test
The Imd Panel Quantitative Blood Test helps detect inborn errors of metabolism in children. This test measures amino acids, acylcarnitines, and other key markers to identify genetic disorders affecting the body's processing of substances. Early diagnosis is crucial for managing these conditions.
Nx Gen Sequencing Duchenne Becker Muscular Dystrophy Test
Genetic test using Next Generation Sequencing to detect mutations in the dystrophin gene associated with Duchenne and Becker muscular dystrophy (DMD/BMD).
Poc1B Gene Cone-Rod Dystrophy Type 20 Genetic Test
Genetic test to identify mutations in the Poc1B gene associated with Cone-Rod Dystrophy Type 20, a condition affecting vision. Uses Next-Generation Sequencing (NGS).
SCN2A Gene Convulsions Benign Familial Infantile 3 Genetic Test
Genetic test analyzing the SCN2A gene to identify mutations associated with benign familial infantile convulsions. Uses Next-Generation Sequencing (NGS) technology.
KDM6A Gene Kabuki Syndrome Type 2 Genetic Test
Genetic test to identify mutations in the KDM6A gene associated with Kabuki syndrome, a rare neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
TIMM21 Gene Mitochondrial Respiratory Chain Disease TIMM21 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TIMM21 gene, associated with mitochondrial respiratory chain diseases. Recommended for individuals with neurological symptoms or a family history of mitochondrial disorders.
BSCL2 Gene SPG17 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the BSCL2 gene for variations linked to hereditary neurological disorders. Suitable for individuals with relevant symptoms or family history.
LYRM4 Gene Combined Oxidative Phosphorylation Deficiency Type 19 Genetic Test
Genetic test for Combined Oxidative Phosphorylation Deficiency Type 19, caused by mutations in the LYRM4 gene. Helps diagnose metabolic disorders related to mitochondrial function.
INS Gene Maturity-Onset Diabetes of the Young Type 10 Genetic Test
This genetic test uses Next-Generation Sequencing (NGS) to analyze the INS gene, identifying potential mutations linked to Maturity-Onset Diabetes of the Young (MODY) Type 10. It helps individuals understand their genetic risk for this specific form of diabetes.
RSPH1 Gene Primary Ciliary Dyskinesia Type 24 Genetic Test
Genetic test to identify mutations in the RSPH1 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia function and leading to respiratory and ENT issues.
Sox18 Gene Hypotrichosis-Lymphedema-Telangiectasia Syndrome Genetic Test
Genetic test to identify mutations in the Sox18 gene associated with Hypotrichosis-Lymphedema-Telangiectasia syndrome. Uses Next-Generation Sequencing (NGS) technology.
GJA5 Gene Atrial Fibrillation Type 11 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify variations in the GJA5 gene associated with an increased risk of developing atrial fibrillation. Helps understand genetic predisposition to this heart condition.
ABCC2 Gene Dubin-Johnson Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ABCC2 gene, aiding in the diagnosis of Dubin-Johnson syndrome, a rare liver disorder. Confirm with the laboratory before booking.
TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TSR2 gene associated with Diamond-Blackfan anemia and mandibulofacial dysostosis.
CHD7 Gene Kallmann Syndrome Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CHD7 gene associated with Kallmann syndrome, a condition affecting puberty and sense of smell. Confirm with the laboratory before booking.
Rad51D Gene Breast-Ovarian Cancer Familial Susceptibility to Type 4 Genetic Test
The Rad51D Gene Breast-Ovarian Cancer Genetic Test identifies mutations in the RAD51D gene, which can increase the risk of breast and ovarian cancers. This test is recommended for individuals with a family history of these cancers.
FLT3 ITD D835Y Mutation Detection
Detects specific genetic mutations (FLT3 ITD and D835Y) in blood cancers like AML, guiding treatment decisions and improving patient outcomes.
Liquid Biopsy Cancer Therapy Chemo Sensitivity Test
A genetic test using a blood sample to help guide cancer treatment decisions by assessing potential sensitivity to chemotherapy and natural substances.
Whole Exome Mitochondrial Genome Sequencing
Whole Exome Mitochondrial Genome Sequencing analyzes the complete mitochondrial genome to identify genetic mutations linked to mitochondrial diseases. This test aids in diagnosis and personalized treatment.
BK Virus PCR Qualitative Test
Detects the presence of BK virus DNA in plasma or urine, crucial for patients with kidney disorders or compromised immune systems.
Genetic Mapping for Oncology Cancer Test
Genetic Mapping for Oncology Cancer Test helps identify genetic predispositions to cancer, aiding in personalized treatment and risk assessment.
Nx Gen Sequencing Episodic Ataxia Test
A genetic test using Next-Generation Sequencing (NGS) and Sanger sequencing to identify mutations associated with episodic ataxia, a condition affecting coordination and balance.
ABCA4 Gene Cone-Rod Dystrophy Type 3 Genetic Test
Genetic test to identify mutations in the ABCA4 gene associated with hereditary eye disorders like cone-rod dystrophy. Uses Next-Generation Sequencing (NGS) for accurate results.
PRRT2 Gene Convulsions Familial Infantile with Paroxysmal Choreoathetosis Genetic Test
Genetic test to identify mutations in the PRRT2 gene associated with familial infantile convulsions and paroxysmal choreoathetosis. Helps diagnose neurological disorders and guide treatment.
EXOSC8 Gene Joubert Syndrome EXOSC8 Related Genetic Test
Genetic test to identify mutations in the EXOSC8 gene associated with Joubert syndrome, a neurological disorder. Uses Next Generation Sequencing (NGS) technology.
ANO5 Gene Miyoshi Muscular Dystrophy Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ANO5 gene associated with Miyoshi Muscular Dystrophy Type 3. Helps in diagnosing and understanding this form of muscular dystrophy.
Zfyve26 Gene Spg15 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ZFYVE26 gene, associated with certain neurological disorders like Spastic Paraplegia Type 15.
MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test
Genetic test for mutations in the MRPS16 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 2, a metabolic disorder affecting mitochondrial function.
GCK Gene Maturity-Onset Diabetes of the Young Type 2 Genetic Test
Genetic test to identify mutations in the GCK gene associated with Maturity-Onset Diabetes of the Young (MODY) Type 2. Helps understand genetic predisposition to diabetes.
DYX1C1 Gene Primary Ciliary Dyskinesia Type 25 Genetic Test
Genetic test to identify mutations in the DYX1C1 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia function and potentially causing respiratory and fertility issues.
NIPAL4 Gene Ichthyosiform Erythroderma Congenital Nonbullous Type 1 Genetic Test
Genetic test analyzing the NIPAL4 gene to help diagnose Congenital Ichthyosiform Erythroderma, a severe skin condition characterized by dryness and scaling.
KCNQ1 Gene Atrial Fibrillation Type 3 Genetic Test
Genetic test analyzing the KCNQ1 gene to identify predispositions to Atrial Fibrillation Type 3. Helps understand risk and guide management.
MYH9 Gene Epstein Syndrome Genetic Test
The MYH9 Gene Epstein Syndrome NGS Genetic DNA Test identifies mutations in the MYH9 gene linked to various genetic disorders, aiding in early diagnosis and management. Utilizes advanced NGS technology.
RPS24 Gene Diamondblackfan Anemia Type 3 Genetic Test
This genetic test identifies mutations in the RPS24 gene associated with Diamond-Blackfan anemia type 3, a rare blood disorder affecting red blood cell production. It uses Next Generation Sequencing (NGS) technology.
ANKRD11 Gene KBG Syndrome Genetic Test
Genetic test to identify mutations in the ANKRD11 gene, associated with KBG syndrome. Helps diagnose the condition, characterized by developmental delays and distinct facial features.
PRKAR1A Gene Carney Complex Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the PRKAR1A gene, associated with Carney complex and increased risk of certain tumors. Helps identify genetic predispositions for early detection and management.
Flt3itd Allelic Ratio
The FLT3ITD Allelic Ratio test helps diagnose and guide treatment for acute myeloid leukemia (AML) by detecting specific genetic mutations. Confirm with the laboratory before booking.
Adenovirus Viral Load Quantitative Test
Measures the amount of Adenovirus in your body. This test helps assess the severity of infection and guide treatment, especially for those with weakened immune systems or severe symptoms.
DNA Extraction from Solid Tissue Animal
DNA Extraction from Solid Tissue Animal test isolates genetic material from animal tissues for research, veterinary diagnostics, and forensic analysis.
Nx Gen Sequencing Dystonia Test
The Nx Gen Sequencing Dystonia Test uses advanced genetic analysis to identify mutations associated with dystonia and other movement disorders, aiding in diagnosis and personalized treatment.
PDE6C Gene Cone-Rod Dystrophy Type 4 Genetic Test
Genetic test to identify mutations in the PDE6C gene associated with Cone-Rod Dystrophy Type 4, a condition causing progressive vision loss. Helps in diagnosis and management.
TUBB3 Gene Cortical Dysplasia Complex with Other Brain Malformations Type 1 Genetic Test
Genetic test analysing the TUBB3 gene to help diagnose Cortical Dysplasia Complex and other brain malformations. Utilises Next-Generation Sequencing (NGS) technology.
FAM111A Gene Kenny-Caffey Syndrome Type 2 Genetic Test
Genetic test to detect mutations in the FAM111A gene associated with Kenny-Caffey syndrome type 2, a condition involving neurological disorders. This test uses Next Generation Sequencing (NGS) technology.
DYSF Gene Miyoshi Myopathy Genetic Test
Genetic test to identify mutations in the DYSF gene associated with Miyoshi myopathy, a rare condition causing progressive muscle weakness. Uses Next-Generation Sequencing (NGS) technology.
ERLIN2 Gene SPG18 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ERLIN2 gene for variations linked to neurological disorders like hereditary spastic paraplegia (HSP).
VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the VARS2 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 20, a metabolic disorder. Confirm with the laboratory before booking.
BLK Gene Maturity-Onset Diabetes of the Young Type 11 Genetic Test
Genetic test to identify mutations in the BLK gene associated with Maturity-Onset Diabetes of the Young (MODY) Type 11, aiding in understanding diabetes risk.
CFAP298 Gene Primary Ciliary Dyskinesia Type 26 Genetic Test
Genetic test to identify mutations in the CFAP298 gene, associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia movement and causing respiratory issues.
PNPLA1 Gene Ichthyosis Congenital Autosomal Recessive PNPLA1 Related Genetic Test
Genetic test to identify mutations in the PNPLA1 gene associated with congenital ichthyosis, a skin disorder. Helps in early diagnosis and management.
ABCC9 Gene Atrial Fibrillation Type 12 Genetic Test
Genetic test to identify variations in the ABCC9 gene associated with an increased risk of developing atrial fibrillation (AF), a common heart rhythm disorder.
F11 Gene Factor XI Deficiency Genetic Test
Genetic test to identify mutations in the F11 gene associated with Factor XI deficiency, a bleeding disorder. Helps understand bleeding risks, especially with a family history.
RPL35A Gene Diamond-Blackfan Anemia Type 5 Genetic Test
This genetic test identifies mutations in the RPL35A gene, associated with Diamond-Blackfan Anemia (DBA), a condition affecting red blood cell production. It helps diagnose the genetic cause of anemia, guiding treatment and family planning.
EHMT1 Gene Kleefstra Syndrome Genetic Test
This genetic test identifies mutations in the EHMT1 gene associated with Kleefstra syndrome, a condition causing developmental delays and distinct facial features. Confirm with the laboratory before booking.
CDC20 Gene Cell Cycle Disorder CDC20 Related Genetic Test
The CDC20 Gene Cell Cycle Disorder NGS Genetic DNA Test identifies mutations in the CDC20 gene, which can be linked to certain cancers. This test helps assess genetic risk and inform personalised health management.
DNA Extraction From Blood EDTA
DNA Extraction From Blood EDTA is a foundational test to isolate DNA from blood samples collected in EDTA tubes, essential for various genetic analyses.
BK Virus PCR Quantitative Test
Detects and quantifies BK Virus, crucial for monitoring kidney transplant patients and preventing complications. Essential for those at risk.
Genetic Mapping for Whole Genome Test
The Genetic Mapping for Whole Genome Test provides a comprehensive analysis of your entire genetic makeup, identifying potential genetic disorders and hereditary risks. This advanced test uses SNP genotyping technology to offer valuable health insights.
Nx Gen Sequencing Glaucoma Test
The Nx Gen Sequencing Glaucoma Test uses advanced genetic analysis to identify potential risks for developing glaucoma, a leading cause of blindness. This test examines multiple genes associated with the condition.
PITPNM3 Gene Cone-Rod Dystrophy Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PITPNM3 gene associated with Cone-Rod Dystrophy Type 5, a cause of progressive vision loss.
IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation, Ocular Coloboma, and Micrognathia Genetic Test
Genetic test to identify mutations in the IGBP1 gene associated with corpus callosum agenesis, mental retardation, ocular coloboma, and micrognathia.
RYR1 Gene King-Denborough Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the RYR1 gene associated with King-Denborough syndrome, a neurological disorder. Confirm price before booking.
PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 Genetic Test
Genetic test to identify mutations in the PIGT gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3. Helps diagnose neurological disorders.
Spart Gene Spg20 Genetic Test
The Spart Gene SPG20 NGS Genetic DNA Test uses Next Generation Sequencing to identify mutations in the SPG20 gene, associated with certain neurological disorders. This test can aid in diagnosis and management for individuals with relevant symptoms or family history.
TARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 21 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TARS2 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 21, a metabolic disorder. Confirm with the laboratory before booking.
HNF1A Gene Maturity-Onset Diabetes of the Young Type 3 Genetic Test
Genetic test to identify mutations in the HNF1A gene associated with Maturity-Onset Diabetes of the Young (MODY) type 3. Helps in accurate diagnosis and management.
Spag1 Gene Primary Ciliary Dyskinesia Type 28 Genetic Test
Genetic test to identify mutations in the Spag1 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia function and respiratory health.
ABCA12 Gene Ichthyosis Congenital Harlequin Fetus Type Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ABCA12 gene associated with Harlequin Ichthyosis, a severe skin disorder. Helps in early diagnosis and management.
KCNE2 Gene Atrial Fibrillation Type 4 Genetic Test
Genetic test to identify mutations in the KCNE2 gene associated with an increased risk of developing atrial fibrillation. Helps assess hereditary factors influencing heart health.
F13A1 Gene Factor XIIIA Deficiency Genetic Test
Genetic test to identify mutations in the F13A1 gene associated with Factor XIIIA deficiency, a condition that can cause severe bleeding disorders. Uses Next Generation Sequencing (NGS) technology.
RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test
This genetic test identifies mutations in the RPS17 gene, which are associated with Diamond-Blackfan anemia, a rare blood disorder affecting red blood cell production. It uses Next Generation Sequencing (NGS) technology.
MGP Gene Keutel Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MGP gene associated with Keutel syndrome. Aids in diagnosis and management for individuals with symptoms or family history.
Msh2 Gene Colorectal Cancer Hereditary Nonpolyposis Type 1 Genetic Test
Genetic test for mutations in the MSH2 gene, associated with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch syndrome. Recommended for individuals with a family history of colorectal cancer.
Fragile X Syndrome FMR1 Detection by PCR
This genetic test identifies mutations in the FMR1 gene associated with Fragile X Syndrome, a common cause of inherited intellectual disability. It is important for individuals with a family history or symptoms.
DNA Extraction from Cultured Cells
DNA Extraction from Cultured Cells isolates high-quality DNA from cells grown in a lab, essential for genetic analysis, research, and biotechnology.
Nx Gen Sequencing Hereditary Retinoblastoma Test
This genetic test uses Next Generation Sequencing to identify mutations in the RB1 and MYCN genes associated with hereditary retinoblastoma, a rare eye cancer. It is recommended for individuals with a family history or symptoms suggestive of the condition.
ADAM9 Gene Cone-Rod Dystrophy Type 9 Genetic Test
This genetic test identifies mutations in the ADAM9 gene associated with cone-rod dystrophy, a condition causing progressive vision loss. It uses Next Generation Sequencing (NGS) for accurate analysis.
TUBB2A Gene Cortical Dysplasia Complex with Other Brain Malformations Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the TUBB2A gene, aiding in the diagnosis of Cortical Dysplasia Complex with Other Brain Malformations Type 5 and related neurological disorders. Confirm with the laboratory before booking.
Rogdi Gene Kohlschutter Tonz Syndrome Genetic Test
This genetic test identifies mutations in the ROGDI gene associated with Kohlschutter Tonz syndrome, a rare neurological disorder. Using Next-Generation Sequencing (NGS), it aids in diagnosis and management.
NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the NFU1 gene, associated with Multiple Mitochondrial Dysfunctions Syndrome Type 1. Aids in diagnosing neurological disorders.
PLP1 Gene SPG2 Genetic Test
The PLP1 Gene SPG2 NGS Genetic DNA Test identifies mutations in the PLP1 gene associated with neurological disorders like Pelizaeus-Merzbacher disease and Spastic Paraplegia Type 2, using advanced Next Generation Sequencing (NGS) technology.
ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test
Genetic test for mutations in the ATP5F1A gene, associated with Combined Oxidative Phosphorylation Deficiency Type 22. Helps diagnose metabolic disorders.
Pdx1 Gene Maturity-Onset Diabetes of the Young Type 4 Genetic Test
Genetic test to identify mutations in the PDX1 gene associated with Maturity-Onset Diabetes of the Young (MODY) Type 4. Helps understand genetic risk for diabetes.
CCDC65 Gene Primary Ciliary Dyskinesia Type 27 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CCDC65 gene, associated with Primary Ciliary Dyskinesia (PCD). Helps diagnose PCD, a genetic disorder affecting cilia movement and causing respiratory issues.
MBTPS2 Gene Ichthyosis Follicularis Atricia and Photophobia Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the MBTPS2 gene associated with Ichthyosis Follicularis Atricia and Photophobia Syndrome. Helps in diagnosing and managing related skin disorders.
NPPA Gene Atrial Fibrillation Type 6 Genetic Test
Genetic test to identify predisposition to atrial fibrillation (AF) by analyzing the NPPA gene. Helps assess risk and guide personalized heart health management.
F12 Gene Factor XII Deficiency Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the F12 gene associated with Factor XII deficiency. Helps in early detection and management.
RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test
This genetic test identifies mutations in the RPL5 gene associated with Diamond-Blackfan anemia (DBA), a rare blood disorder affecting red blood cell production. It helps in diagnosing and understanding the genetic basis of this condition.
GDF6 Gene Klippel-Feil Syndrome Type 1 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the GDF6 gene associated with Klippel-Feil Syndrome Type 1, aiding in diagnosis and management.
MLH1 Gene Colorectal Cancer Hereditary Nonpolyposis Type 2 Genetic Test
Genetic test for mutations in the MLH1 gene, associated with an increased risk of hereditary colorectal cancer (HNPCC). Recommended for individuals with a family history of colorectal cancer.
DNA Extraction From Bacteria
Isolate high-quality DNA from bacterial cells for research, diagnostics, and biotechnology applications. Essential for accurate genetic analysis.
Genodermatoses Exome Sequencing Panel Test
A genetic test analyzing over 20,000 genes to identify hereditary skin disorders, suitable for individuals with unexplained dermatological symptoms.
Interleukin 28B rs12979860 rs8099917 Genotyping Qualitative PCR Test
This genetic test analyzes variations in the Interleukin 28B gene (rs12979860 and rs8099917) which may influence response to hepatitis C treatment and risk for liver disorders.
Nx Gen Sequencing Leber Congenital Amaurosis Test
Genetic test to identify mutations associated with Leber Congenital Amaurosis (LCA), a rare inherited retinal disease causing severe vision impairment.
Steroid Panel for Congenital Adrenal Hyperplasia CAH Test
The Steroid Panel for Congenital Adrenal Hyperplasia (CAH) Test helps diagnose adrenal gland disorders by measuring key steroid hormones. Essential for identifying CAH and guiding treatment.
RIMS1 Gene Cone-Rod Dystrophy Type 7 Genetic Test
Genetic test to identify mutations in the RIMS1 gene associated with Cone-Rod Dystrophy Type 7, a cause of retinal degeneration and vision loss. Uses Next Generation Sequencing (NGS) technology.
CNTNAP2 Gene Cortical Dysplasia-Focal Epilepsy Syndrome Genetic Test
Genetic test analyzing the CNTNAP2 gene to help identify potential causes of cortical dysplasia and focal epilepsy. Utilizes Next-Generation Sequencing (NGS) technology.
GALC Gene Krabbe Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GALC gene associated with Krabbe disease, a severe neurological disorder. Recommended for individuals with family history or symptoms.
BOLA3 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the BOLA3 gene, associated with Multiple Mitochondrial Dysfunctions Syndrome Type 2 and neurological disorders.
SPG21 Gene SPG21 Genetic Test
The SPG21 Gene Genetic Test uses Next Generation Sequencing (NGS) to identify mutations in the SPG21 gene, associated with certain neurological disorders. This test can help understand potential risks, especially for individuals with a family history of these conditions.
GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 Genetic Test
Genetic test for Combined Oxidative Phosphorylation Deficiency Type 23 caused by mutations in the GTPBP3 gene. Helps diagnose metabolic disorders related to mitochondrial function.
HNF1B Gene Maturity-Onset Diabetes of the Young Type 5 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the HNF1B gene, associated with Maturity-Onset Diabetes of the Young (MODY) Type 5. Helps understand genetic diabetes risk for tailored management.
CCNO Gene Primary Ciliary Dyskinesia Type 29 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the CCNO gene associated with Primary Ciliary Dyskinesia (PCD), a condition causing chronic respiratory issues.
SLC27A4 Gene Ichthyosis Prematurity Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the SLC27A4 gene associated with ichthyosis prematurity syndrome, a condition causing severe skin dryness and scaling. Confirm with the laboratory before booking.
KCNA5 Gene Atrial Fibrillation Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the KCNA5 gene for variations associated with an increased risk of developing atrial fibrillation (AF).
MTTY Gene Focal Segmental Glomerulosclerosis and Dilated Cardiomyopathy MTTY Related Genetic Test
Genetic test to identify mutations in the MTTY gene associated with Focal Segmental Glomerulosclerosis (FSGS) and Dilated Cardiomyopathy (DCM).
RPL11 Gene Diamond-Blackfan Anemia Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the RPL11 gene associated with Diamond-Blackfan anemia, a rare blood disorder affecting red blood cell production.
GDF3 Gene Klippel-Feil Syndrome Type 3 Autosomal Dominant Genetic Test
Genetic test to identify mutations in the GDF3 gene associated with Klippel-Feil Syndrome Type 3, aiding in diagnosis and management.
NRAS Gene Colorectal Cancer Hereditary Genetic Test
The NRAS Gene Colorectal Cancer Hereditary NGS Genetic DNA Test identifies mutations in the NRAS gene linked to colorectal cancer risk. Recommended for individuals with a family history of the disease. Utilizes Next Generation Sequencing (NGS) technology.
Frozen1
The Frozen1 test analyzes tissue samples using cryostat cutting and staining to detect specific genetic markers. It is a vital tool for diagnosing certain genetic conditions.
Nx Gen Sequencing Megaloencephalic Leukoencephalopathy With Subcortical Cysts Test
Genetic test to identify mutations in the MLC1 and HEPACAM genes associated with megaloencephalic leukoencephalopathy, a condition often presenting with an enlarged head size and neurological symptoms.
C21orf2 Gene Cone-Rod Dystrophy C21orf2 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the C21orf2 gene associated with cone-rod dystrophy, a hereditary vision disorder. Helps in early diagnosis and management.
CFL1 Gene Corticobasal Degeneration CFL1 Related Genetic Test
Genetic test to identify mutations in the CFL1 gene associated with corticobasal degeneration (CBD), a progressive neurological disorder. Helps understand genetic risk.
Bcs1l Gene Leigh Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the BCS1L gene, associated with Leigh syndrome. Helps in diagnosing this severe neurological disorder.
Iba57 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the IBA57 gene, associated with Multiple Mitochondrial Dysfunctions Syndrome Type 3. Helps diagnose neurological disorders linked to mitochondrial dysfunction.
B4GALNT1 Gene SPG26 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the B4GALNT1 gene, aiding in the diagnosis of specific neurological disorders like hereditary spastic paraplegia.
TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 Genetic Test
Genetic test for TRMT5 gene mutations associated with Combined Oxidative Phosphorylation Deficiency Type 26, a metabolic disorder. Uses Next Generation Sequencing (NGS) technology.
KLF11 Gene Maturity-Onset Diabetes of the Young Type 7 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the KLF11 gene associated with Maturity-Onset Diabetes of the Young (MODY) type 7. Helps assess diabetes risk.
DNAH5 Gene Primary Ciliary Dyskinesia Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the DNAH5 gene associated with Primary Ciliary Dyskinesia (PCD) Type 3. Helps diagnose the genetic cause of respiratory issues.
FLG Gene Ichthyosis Vulgaris Genetic Test
Genetic test to identify mutations in the FLG gene associated with ichthyosis vulgaris, a common skin disorder characterized by dry, scaly skin.
MYH6 Gene Atrial Septal Defect Type 3 Genetic Test
Genetic test to identify mutations in the MYH6 gene associated with Atrial Septal Defect Type 3, a congenital heart condition. Helps understand genetic predisposition and inform management.
SLC34A1 Gene Fanconi Renotubular Syndrome Type 2 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the SLC34A1 gene associated with Fanconi Renotubular Syndrome Type 2, a kidney disorder. Helps diagnose genetic causes of renal dysfunction.
RPS7 Gene Diamond-Blackfan Anemia Type 8 Genetic Test
Genetic test to identify mutations in the RPS7 gene associated with Diamond-Blackfan anemia, a rare blood disorder. Useful for diagnosis and family planning.
MEOX1 Gene Klippel-Feil Syndrome Type 2 Autosomal Dominant Genetic Test
Genetic test to detect mutations in the MEOX1 gene associated with Klippel-Feil syndrome Type 2. Helps identify genetic risks and informs family planning.
PMS2 Gene Colorectal Cancer Hereditary Nonpolyposis Type 4 Genetic Test
Genetic test to identify mutations in the PMS2 gene, associated with an increased risk of hereditary colorectal cancer (Lynch syndrome). Helps guide screening and prevention.
Frozen2
The Frozen2 test analyzes tissue samples to help detect potential genetic disorders. This genetic test can aid in early detection and informed health decisions.
DNA Extraction From Insect
DNA Extraction from Insect test isolates DNA from insect samples for research and analysis. Essential for entomology, genetics, and environmental studies.
Nx Gen Sequencing Maturity Onset Diabetes of Young MODY Test
Identify genetic mutations linked to Maturity Onset Diabetes of the Young (MODY) with our Next Generation Sequencing (NGS) test. This test helps understand hereditary diabetes in young individuals and guides treatment.
CACNA1F Gene Cone-Rod Dystrophy X-Linked Type 3 Genetic Test
This genetic test identifies mutations in the CACNA1F gene, associated with a specific type of cone-rod dystrophy, a condition causing progressive vision loss. Utilising Next Generation Sequencing (NGS) technology, it aids in diagnosing genetic causes of vision impairment.
CR1 Gene CR1 Deficiency Genetic Test
The CR1 Gene CR1 Deficiency NGS Genetic DNA Test analyzes the CR1 gene to identify potential genetic predispositions linked to neurological disorders. This test uses Next-Generation Sequencing (NGS) technology for comprehensive genetic analysis.
Cox15 Gene Leigh Syndrome Genetic Test
Genetic test to identify mutations in the Cox15 gene associated with Leigh syndrome, a severe neurological disorder. Uses Next-Generation Sequencing (NGS) technology.
ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test
Genetic test analysing the ACTA2 gene to identify mutations associated with Multisystemic Smooth Muscle Dysfunction Syndrome. Utilises Next Generation Sequencing (NGS) technology.
DDHD1 Gene SPG28 Genetic Test
The DDHD1 Gene SPG28 NGS Genetic DNA Test identifies mutations in the DDHD1 gene linked to specific neurological disorders using Next Generation Sequencing (NGS) technology. This test aids in diagnosis and informs treatment decisions.
MARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 25 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MARS2 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 25, a metabolic disorder.
NeuroD1 Gene Maturity-Onset Diabetes of the Young Type 6 Genetic Test
Genetic test to identify mutations in the NeuroD1 gene associated with Maturity-Onset Diabetes of the Young (MODY) Type 6, using Next Generation Sequencing (NGS).
Hydin Gene Primary Ciliary Dyskinesia Type 5 Genetic Test
Genetic test to identify mutations in the Hydin gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting the cilia in the respiratory tract.
TGM1 Gene Ichthyosis Congenital Autosomal Recessive Type 1 Genetic Test
Genetic test to identify mutations in the TGM1 gene, associated with Congenital Ichthyosis, a skin disorder. Helps in diagnosis and management.
TBX20 Gene Atrial Septal Defect Type 4 Genetic Test
This genetic test identifies mutations in the TBX20 gene associated with atrial septal defects (ASDs), a type of congenital heart defect. It helps understand genetic risks for heart conditions.
ACTN4 Gene Focal Segmental Glomerulosclerosis Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the ACTN4 gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney disorder. Confirm with the laboratory before booking.
Cox4i2 Gene Dyserythropoietic Anemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the COX4I2 gene associated with dyserythropoietic anemia. Helps diagnose genetic causes of anemia.
Myo18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test
Genetic test analyzing the MYO18B gene to identify mutations associated with Klippel-Feil syndrome type 4, characterized by cervical spine fusion, myopathy, and facial dysmorphism. Uses Next Generation Sequencing (NGS) technology.
Msh6 Gene Colorectal Cancer Hereditary Nonpolyposis Type 5 Genetic Test
Assess your genetic risk for hereditary nonpolyposis colorectal cancer (HNPCC) with the MSH6 gene test using advanced NGS technology. Identify potential mutations linked to colorectal cancer predisposition.
Frozen3
The Frozen3 test is a genetic assessment using Cryostat Cutting & Staining on tissue samples to help diagnose medical conditions. Results are available quickly.
BCRABL Major Quantitative Test
The BCRABL Major Quantitative Test measures the level of the BCR-ABL fusion gene, crucial for monitoring Chronic Myeloid Leukemia (CML) and Acute Lymphoblastic Leukemia (ALL) treatment response.
DNA Extraction From Stool
The DNA Extraction from Stool test analyzes genetic material from a stool sample to identify genetic predispositions and aid in understanding certain health conditions. This test provides valuable insights for personalized health approaches.
Nx Gen Sequencing Ophthalmoplegia Test
A genetic test using Next Generation Sequencing (NGS) to identify mutations associated with ophthalmoplegia (eye muscle weakness).
Steroid Panel for Premature Adrenarche Test
A specialized test to evaluate hormone levels in children showing early signs of sexual maturation, helping to identify potential adrenal gland disorders.
TGFBI Gene Corneal Dystrophy Epithelial Basement Membrane Genetic Test
This genetic test identifies mutations in the TGFBI gene associated with corneal dystrophies, aiding in early diagnosis and management of eye conditions.
TMCO1 Gene Craniofacial Dysmorphism Skeletal Anomalies and Mental Retardation Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the TMCO1 gene, associated with craniofacial dysmorphism, skeletal anomalies, and developmental delays.
NDUFA10 Gene Leigh Syndrome Genetic Test
This genetic test analyzes the NDUFA10 gene to help diagnose Leigh syndrome, a severe neurological disorder. It uses Next Generation Sequencing (NGS) technology.
ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the ISCA2 gene for mutations associated with Multiple Mitochondrial Dysfunctions Syndrome Type 4, a neurological disorder.
KIF1A Gene SPG30 Genetic Test
The KIF1A Gene SPG30 NGS Genetic DNA Test identifies mutations in the KIF1A gene associated with certain neurological disorders. This test uses Next Generation Sequencing (NGS) technology.
TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the TSFM gene, aiding in the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 3, a metabolic disorder linked to mitochondrial dysfunction. Confirm with the laboratory before booking.
CEL Gene Maturity-Onset Diabetes of the Young Type 8 Genetic Test
This genetic test identifies mutations in the CEL gene associated with Maturity-Onset Diabetes of the Young (MODY) Type 8, a rare form of diabetes. It helps clarify diagnosis and guide management, especially for those with a family history or atypical diabetes symptoms.
DNAH11 Gene Primary Ciliary Dyskinesia Type 7 Genetic Test
Genetic test to identify mutations in the DNAH11 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia function and causing respiratory issues.
KRT2 Gene Ichthyosis Bullous Type Genetic Test
This genetic test identifies mutations in the KRT2 gene associated with Ichthyosis Bullous Type, a skin disorder. It uses Next-Generation Sequencing (NGS) technology to analyze DNA.
ACTC1 Gene Atrial Septal Defect Type 5 Genetic Test
Genetic test to identify mutations in the ACTC1 gene associated with Atrial Septal Defect Type 5, a congenital heart condition. Uses Next Generation Sequencing (NGS) technology.
TRPC6 Gene Focal Segmental Glomerulosclerosis Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the TRPC6 gene associated with Focal Segmental Glomerulosclerosis (FSGS) Type 2, a kidney disorder. Helps assess risk, especially with a family history.
RPS10 Gene Diamond-Blackfan Anemia Type 9 Genetic Test
This genetic test analyzes the RPS10 gene using Next-Generation Sequencing (NGS) to help diagnose Diamond-Blackfan anemia, a rare blood disorder affecting red blood cell production. It is useful for individuals with symptoms of anemia or a family history of the condition.
COL2A1 Gene Kniest Dysplasia Genetic Test
The COL2A1 Gene Kniest Dysplasia NGS Genetic DNA Test helps identify genetic mutations related to skeletal dysplasia, such as Kniest dysplasia. This test uses advanced sequencing technology to analyze the COL2A1 gene, aiding in diagnosis and management.
MLH3 Gene Colorectal Cancer Hereditary Nonpolyposis Type 7 Genetic Test
Genetic test to identify mutations in the MLH3 gene, associated with an increased risk of hereditary nonpolyposis colorectal cancer (HNPCC). Suitable for individuals with a family history of colorectal cancer.
Gastrointestinal Cancer Gene Panel
The Gastrointestinal Cancer Gene Panel assesses genetic risk factors for various gastrointestinal cancers, aiding in early detection and personalized prevention strategies.
BCRABL Minor Quantitative Test
The BCRABL Minor Quantitative Test monitors treatment effectiveness and detects potential relapse in patients with Chronic Myeloid Leukemia (CML).
Nx Gen Sequencing Microphtahlmia Anophthalmia Coloboma Spectrum Test
The Nx Gen Sequencing Microphtahlmia Anophthalmia Coloboma Spectrum Test uses advanced genetic analysis to identify the causes of specific eye defects like microphtahlmia, anophthalmia, and coloboma. This test helps in understanding the genetic basis of these conditions.
VSX1 Gene Corneal Dystrophy Posterior Polymorphous Type 1 Genetic Test
Genetic test to identify mutations in the VSX1 gene associated with Posterior Polymorphous Corneal Dystrophy (PPCD).
SLC6A8 Gene Creatine Deficiency Syndrome X-Linked Genetic Test
This genetic test identifies mutations in the SLC6A8 gene, which can cause X-linked creatine deficiency syndrome, a condition affecting neurological function. Early diagnosis helps with management.
FOXRED1 Gene Leigh Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FOXRED1 gene associated with Leigh syndrome, a neurological disorder. Helps in early diagnosis and management.
MSTN Gene Muscle Hypertrophy Genetic Test
The MSTN Gene Muscle Hypertrophy test analyzes variations in the MSTN gene, which influences muscle growth. This genetic test can provide insights into your potential for muscle development, useful for athletes and fitness enthusiasts.
Reep1 Gene Spg31 Genetic Test
The Reep1 Gene Spg31 NGS Genetic DNA Test analyzes the REEP1 gene, associated with certain neurological disorders. This test uses Next Generation Sequencing (NGS) to identify genetic variations.
TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the TUFM gene, associated with Combined Oxidative Phosphorylation Deficiency Type 4, a metabolic disorder affecting energy production. Helps diagnose and guide management.
PAX4 Gene Maturity-Onset Diabetes of the Young Type 9 Genetic Test
Genetic test to identify variations in the PAX4 gene associated with Maturity-Onset Diabetes of the Young (MODY) Type 9, aiding in early diagnosis and personalized management.
NME8 Gene Primary Ciliary Dyskinesia Type 6 Genetic Test
This genetic test identifies mutations in the NME8 gene associated with Primary Ciliary Dyskinesia (PCD), a condition affecting cilia function and causing respiratory issues and potential infertility.
ST14 Gene Ichthyosis Congenital Autosomal Recessive Type 11 Genetic Test
Genetic test to identify mutations in the ST14 gene associated with Congenital Ichthyosis, a rare skin disorder. Helps in diagnosis and management.
TLL1 Gene Atrial Septal Defect Type 6 Genetic Test
This genetic test identifies mutations in the TLL1 gene associated with Atrial Septal Defects (ASDs), a type of congenital heart defect. It uses Next Generation Sequencing (NGS) technology to help understand the genetic basis of the condition.
CD2AP Gene Focal Segmental Glomerulosclerosis Type 3 Genetic Test
Genetic test to identify mutations in the CD2AP gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney disorder. Uses Next-Generation Sequencing (NGS).
C15orf41 Gene Dyserythropoietic Anemia Congenital Type 1B Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the C15orf41 gene associated with Congenital Dyserythropoietic Anemia Type 1B. Helps diagnose genetic causes of anemia.
KANSL1 Gene Koolen Syndrome Genetic Test
Genetic test to identify mutations in the KANSL1 gene associated with Koolen syndrome, a condition linked to neurodevelopmental disorders.
TGFBR2 Gene Colorectal Cancer Hereditary Nonpolyposis Type 6 Genetic Test
Genetic test to identify mutations in the TGFBR2 gene associated with an increased risk of hereditary nonpolyposis colorectal cancer (HNPCC).
GATA2 Full Length Gene Sequencing for Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, and AML
GATA2 Full Length Gene Sequencing helps diagnose conditions like Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, and AML by identifying mutations in the GATA2 gene.
BetaActin Quantitative Test
The BetaActin Quantitative Test measures Beta-Actin levels in whole blood or culture cells to help assess cellular responses related to viral infections.
DNA Extraction From Plasma Or Serum
This test isolates DNA from plasma or serum, a key step for various genetic analyses. It helps identify hereditary conditions and understand genetic predispositions.
Interleukin-6 IL-6 Plus Panel Test
The Interleukin-6 IL-6 Plus Panel Test assesses inflammation levels by measuring IL-6, CRP, and D-Dimer. Useful for diagnosing and monitoring inflammatory conditions.
Nx Gen Sequencing Optic Atrophy Test
The Nx Gen Sequencing Optic Atrophy Test uses advanced genetic sequencing to identify mutations linked to optic atrophy, a condition causing vision loss. This test examines key genes associated with optic nerve health.
SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 Genetic Test
Genetic test to identify mutations in the SLC4A11 gene associated with Corneal Endothelial Dystrophy Type 2, a condition affecting vision. Uses Next-Generation Sequencing (NGS) technology.
CAV3 Gene Creatine Phosphokinase Elevated Serum Genetic Test
This genetic test analyzes the CAV3 gene to identify mutations linked to elevated creatine phosphokinase levels and potential neurological disorders. Uses Next-Generation Sequencing (NGS) technology.
NDUFA2 Gene Leigh Syndrome Genetic Test
This genetic test identifies mutations in the NDUFA2 gene, which are associated with Leigh syndrome, a severe neurological disorder. Early diagnosis can help guide management and treatment.
POMK Gene Muscle-Eye-Brain Disease POMK Related Genetic Test
The POMK Gene Muscle-Eye-Brain Disease Genetic Test uses Next-Generation Sequencing (NGS) to identify mutations in the POMK gene associated with muscle, eye, and brain disorders. This test aids in diagnosing genetic predispositions for early intervention.
FA2H Gene SPG35 Genetic Test
The FA2H Gene SPG35 NGS Genetic DNA Test identifies mutations in the FA2H gene linked to neurological disorders using advanced Next-Generation Sequencing (NGS) technology.
MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the MRPS22 gene for mutations associated with Combined Oxidative Phosphorylation Deficiency Type 5, a metabolic disorder. Recommended for individuals with relevant symptoms or family history.
NKX22 Gene Maturity-Onset Diabetes of the Young NKX22 Related Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the NKX22 gene associated with Maturity-Onset Diabetes of the Young (MODY). Helps understand genetic factors contributing to diabetes.
DNAH9 Gene Primary Ciliary Dyskinesia DNAH9 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the DNAH9 gene associated with primary ciliary dyskinesia (PCD), a condition affecting cilia movement and causing chronic respiratory issues.
Alox12b Gene Ichthyosis Congenital Autosomal Recessive Type 2 Genetic Test
Genetic test for mutations in the ALOX12B gene, associated with Ichthyosis Congenital Autosomal Recessive Type 2. Helps diagnose the condition, especially with a family history.
CITED2 Gene Atrial Septal Defect Type 8 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the CITED2 gene for mutations associated with Atrial Septal Defect Type 8. Helps identify genetic predispositions to this congenital heart condition.
APOL1 Gene Focal Segmental Glomerulosclerosis Type 4 Susceptibility to Genetic Test
This genetic test assesses your risk for Focal Segmental Glomerulosclerosis (FSGS) Type 4 by analyzing variations in the APOL1 gene. It helps identify genetic predispositions to specific kidney disorders, aiding in early intervention and management.
KIF23 Gene Dyserythropoietic Anemia Congenital Type 3 Genetic Test
This genetic test identifies mutations in the KIF23 gene associated with congenital dyserythropoietic anemia, a type of inherited anemia. It uses Next-Generation Sequencing (NGS) technology for accurate results.
Fgf10 Gene Ladd Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the FGF10 gene associated with LADD syndrome. Helps diagnose individuals with symptoms like abnormal tooth development or hair loss.
EPCAM Gene Colorectal Cancer Hereditary Nonpolyposis Type 8 Genetic Test
Genetic test for EPCAM gene mutations associated with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) risk. Recommended for individuals with a family history of colorectal cancer.
BetaGlobin Quantitative Test
The BetaGlobin Quantitative Test measures beta-globin levels in the blood to help diagnose genetic disorders like beta-thalassemia and sickle cell disease. Confirm with the laboratory before booking.
DNA Extraction from Saliva
DNA Extraction from Saliva is a non-invasive procedure to obtain genetic material from a saliva sample for various genetic analyses.
Nx Gen Sequencing Usher Syndrome Test
Genetic test to identify mutations associated with Usher Syndrome, a condition causing hearing and vision loss. Helps with early diagnosis and management.
PXDN Gene Corneal Opacification and Other Ocular Anomalies Genetic Test
Genetic test identifying mutations in the PXDN gene associated with corneal opacification and other eye disorders. Helps understand genetic risks for ocular health.
PRNP Gene Creutzfeldt-Jakob Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the PRNP gene associated with Creutzfeldt-Jakob Disease (CJD), a rare neurological disorder. Helps assess risk and inform diagnosis.
NDUFA9 Gene Leigh Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the NDUFA9 gene for mutations associated with Leigh syndrome, a neurological disorder. Helps identify risks and guide management.
LAMA2 Gene Muscular Dystrophy Type 1A Genetic Test
Genetic test to identify mutations in the LAMA2 gene, associated with a form of muscular dystrophy. Helps in diagnosing and managing this condition.
ZFYVE27 Gene SPG33 Genetic Test
The ZFYVE27 Gene SPG33 NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders like hereditary spastic paraplegia. This test uses advanced sequencing technology to provide insights into genetic predispositions.
AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 Genetic Test
This genetic test analyzes the AIFM1 gene to help diagnose Combined Oxidative Phosphorylation Deficiency Type 6, a metabolic disorder affecting energy production. It uses Next-Generation Sequencing (NGS) technology.
RFX6 Gene Maturity-Onset Diabetes of the Young RFX6 Related Genetic Test
Genetic test to identify mutations in the RFX6 gene associated with Maturity-Onset Diabetes of the Young (MODY). Helps understand genetic risk for this specific type of diabetes.
DNAI2 Gene Primary Ciliary Dyskinesia Type 9 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the DNAI2 gene for mutations associated with Primary Ciliary Dyskinesia (PCD) Type 9, a condition affecting respiratory health.
CERS3 Gene Ichthyosis Congenital Autosomal Recessive Type 9 Genetic Test
Genetic test to identify mutations in the CERS3 gene associated with Congenital Ichthyosis, a skin condition. Helps confirm diagnosis and guide management.
GATA6 Gene Atrial Septal Defect Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the GATA6 gene associated with atrial septal defects (ASDs). Helps assess genetic risk for individuals with a family history or symptoms related to heart conditions.
INF2 Gene Focal Segmental Glomerulosclerosis Type 5 Genetic Test
Genetic test to identify mutations in the INF2 gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney disorder. Helps understand genetic predisposition.
KLF1 Gene Dyserythropoietic Anemia Congenital Type 4 Genetic Test
This genetic test identifies mutations in the KLF1 gene associated with congenital dyserythropoietic anemia type 4, aiding in diagnosis and management.
FGFR2 Gene LADD Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FGFR2 gene associated with LADD syndrome. Aids in early diagnosis and management.
CCND1 Gene Colorectal Cancer Hereditary Susceptibility to Genetic Test
Genetic test to assess hereditary risk for colorectal cancer by analyzing the CCND1 gene. Suitable for individuals with a family history of the disease.
Glucose-6-Phosphate Dehydrogenase G6PD Full Length Gene Sequence Analysis
The Glucose-6-Phosphate Dehydrogenase (G6PD) Full Length Gene Sequence Analysis is a genetic test to identify mutations in the G6PD gene, which can cause enzyme deficiency leading to hemolytic anemia. This test helps in managing health risks associated with certain triggers.
B Pseudomalie Bacterial Load Test
The B Pseudomalie Bacterial Load Test measures the amount of Pseudomalie virus in your blood. This test helps doctors monitor infection severity and treatment effectiveness. Uses Real Time PCR technology.
DNA Extraction from Milk
Extracts DNA from milk samples for genetic analysis, research, food safety, and animal breeding applications. Confirm price and availability before booking.
Nx Gen Sequencing Retinitis Pigmentosa Test
This genetic test helps identify the specific gene mutations causing Retinitis Pigmentosa, a condition leading to progressive vision loss. It uses advanced sequencing technology to analyze multiple genes associated with the disease.
NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia Genetic Test
Genetic test to identify mutations in the NLRP1 gene associated with corneal intraepithelial dyskeratosis and ectodermal dysplasia.
MTCO2 Gene Cytochrome C Oxidase 2 Deficiency Genetic Test
Genetic test to identify mutations in the MTCO2 gene, associated with mitochondrial diseases and neurological disorders. Uses Next Generation Sequencing (NGS).
NDUFAF1 Gene Leigh Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the NDUFAF1 gene, associated with Leigh syndrome, a severe neurological disorder. Helps in diagnosis and family counseling.
FKRP Gene Muscular Dystrophy Type 1C Genetic Test
Genetic test to identify mutations in the FKRP gene, associated with Limb-Girdle Muscular Dystrophy 2I (Muscular Dystrophy Type 1C).
PNPLA6 Gene SPG39 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PNPLA6 gene associated with certain neurological disorders. Aids in diagnosis and management.
C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the C12ORF65 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 7, a metabolic disorder. Confirm with the laboratory before booking.
ZFP57 Gene Maturity-Onset Diabetes of the Young ZFP57 Related Genetic Test
Genetic test to identify mutations in the ZFP57 gene associated with Maturity-Onset Diabetes of the Young (MODY). Helps in early diagnosis and management.
P2RX2 Gene Progressive Hearing Loss Genetic Test
Genetic test to identify mutations in the P2RX2 gene associated with progressive hearing loss. Helps understand the genetic basis of hearing impairment.
ABCA12 Gene Ichthyosis Lamellar Type 2 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ABCA12 gene, aiding in the diagnosis of Lamellar Ichthyosis, a genetic skin disorder. Confirm with the laboratory before booking.
GATA4 Gene Atrioventricular Septal Defect Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the GATA4 gene for mutations associated with Atrioventricular Septal Defect Type 4. Helps identify genetic predispositions to cardiovascular conditions.
MYO1E Gene Focal Segmental Glomerulosclerosis Type 6 Genetic Test
Genetic test to identify mutations in the MYO1E gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney disorder. Helps in early diagnosis and management.
EPOR Gene Erythrocytosis Familial Type 1 Genetic Test
This genetic test identifies mutations in the EPOR gene associated with Familial Erythrocytosis Type 1, a condition causing increased red blood cell production. Understanding your genetic risk can help guide health management.
EXT1 Gene Langer-Giedion Syndrome Genetic Test
Genetic test to identify mutations in the EXT1 gene associated with Langer-Giedion syndrome, using Next Generation Sequencing (NGS) technology.
PTEN Gene Cowden Syndrome Type 1 Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify mutations in the PTEN gene, associated with Cowden syndrome and increased risk for certain cancers. Confirm with the laboratory before booking.
Glycogen Storage Disorder Gene Panel
A genetic test to identify mutations associated with glycogen storage disorders, aiding in early diagnosis and management. Confirm price and availability before booking.
B Pseudomalie RNA Detection Qualitative Test
Detects the presence of B Pseudomalie virus RNA using a qualitative test. Essential for diagnosing specific viral infections.
DNA QC and Quantitation Nanodrop
Assess the quality and concentration of your DNA sample using the DNA QC and Quantitation Nanodrop test. Essential for accurate genetic research and testing.
Nx Gen Sequencing Tuberous Sclerosis Complex Test
Genetic test using Next-Generation Sequencing to identify mutations in the TSC1 and TSC2 genes, aiding in the diagnosis of Tuberous Sclerosis Complex (TSC).
EFEMP1 Gene Doyne Honeycob Retinal Dystrophy Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the EFEMP1 gene associated with Doyne Honeycomb Retinal Dystrophy. Helps identify genetic risks for eye disorders.
MTCO1 Gene Cytochrome C Oxidase 1 Deficiency Genetic Test
Genetic test for MTCO1 gene mutations, identifying cytochrome c oxidase deficiency linked to mitochondrial neurological disorders. Uses Next-Generation Sequencing (NGS).
NDUFAF3 Gene Leigh Syndrome Genetic Test
Genetic test to identify mutations in the NDUFAF3 gene associated with Leigh syndrome, a severe neurological disorder. Helps in diagnosis and treatment guidance.
Large1 Gene Muscular Dystrophy Type 1D Genetic Test
Genetic test to identify mutations in the LARGE1 gene, associated with Muscular Dystrophy Type 1D. Uses Next Generation Sequencing (NGS) technology.
ATL1 Gene SPG3A Genetic Test
The ATL1 Gene SPG3A NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders using advanced Next-Generation Sequencing (NGS) technology. This test provides valuable insights for diagnosis, management, and family planning.
AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the AARS2 gene, associated with Combined Oxidative Phosphorylation Deficiency Type 8, a metabolic disorder. Supports diagnosis and management.
MEFV Gene Mediterranean Fever Genetic Test
Genetic test to detect mutations in the MEFV gene associated with familial Mediterranean fever (FMF), a condition causing recurrent fever and inflammation. Uses Next-Generation Sequencing (NGS).
CACNA1D Gene Sinoatrial Node Dysfunction and Deafness Genetic Test
Genetic test analyzing the CACNA1D gene to identify mutations linked to sinoatrial node dysfunction and deafness. Utilizes Next-Generation Sequencing (NGS) technology.
CYP4F22 Gene Ichthyosis Lamellar Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CYP4F22 gene associated with Ichthyosis Lamellar Type 3, a skin disorder characterized by dry, scaly skin.
GATA6 Gene Atrioventricular Septal Defect Type 5 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GATA6 gene associated with Atrioventricular Septal Defect Type 5 (AVSD). Recommended for individuals with a family history of congenital heart disease.
ANLN Gene Focal Segmental Glomerulosclerosis Type 8 Genetic Test
This genetic test identifies mutations in the ANLN gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney disorder. It uses Next-Generation Sequencing (NGS) to assess genetic risk.
F2 Gene Dysprothrombinemia Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the F2 gene associated with dysprothrombinemia, a bleeding disorder. Helps individuals understand their risk and manage potential complications.
TRPS1 Gene Langer-Giedion Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the TRPS1 gene associated with Langer-Giedion syndrome. Aids in diagnosing this rare genetic disorder.
SDHD Gene Cowden Syndrome Type 3 Genetic Test
Genetic test for mutations in the SDHD gene associated with Cowden syndrome, a condition increasing cancer risk. Uses Next Generation Sequencing (NGS) technology.
Haemophilia A B Gene Panel
The Haemophilia A B Gene Panel is a genetic test to identify mutations in the F8 and F9 genes associated with Haemophilia A and B, hereditary bleeding disorders. This test helps understand genetic risks and informs treatment decisions.
Boca Virus Viral Load Quantitative Test
Measures the amount of Boca virus in a sample to help assess infection severity and guide treatment. Uses Real Time PCR technology.
DNA QC and Quantitation Qubit
Assesses the quality and quantity of extracted DNA using the Qubit fluorometer, ensuring reliable results for genetic analyses.
Glioma Prognostic Panel Test
The Glioma Prognostic Panel Test helps assess the prognosis of glioma, a type of brain cancer, by analyzing key genetic markers like IDH1, IDH2, and MGMT. This test aids in treatment planning.
Inv16 P13q22 T1616P13q22 Gene Rearrangement Qualitative PCR Test
This genetic test detects specific rearrangements in the Inv16 region, often associated with certain types of blood cancers. It helps guide diagnosis and treatment decisions.
NGS Gen Whole Exome Sequencing Trio Test
The NGS Gen Whole Exome Sequencing Trio Test analyzes over 21,000 genes in a patient and their parents to identify the genetic basis of inherited disorders. This comprehensive test aids in diagnosis, treatment planning, and understanding hereditary risks.
CHN1 Gene Duane Retraction Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CHN1 gene associated with Duane Retraction Syndrome, a condition affecting eye movement. Confirm with the laboratory before booking.
MTCO3 Gene Cytochrome c Oxidase 3 Deficiency Genetic Test
The MTCO3 Gene Cytochrome c Oxidase 3 Deficiency NGS Genetic DNA Test helps identify genetic mutations linked to mitochondrial dysfunction and neurological disorders. This test uses Next-Generation Sequencing (NGS) to analyze the MTCO3 gene.
NDUFAF2 Gene Leigh Syndrome Genetic Test
The NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test identifies genetic mutations linked to Leigh syndrome, a severe neurological disorder. This test uses Next-Generation Sequencing (NGS) to analyze the NDUFAF2 gene, aiding in diagnosis and guiding treatment.
DMD Gene Muscular Dystrophy Becker Type Genetic Test
This genetic test uses Next Generation Sequencing (NGS) to identify mutations in the DMD gene associated with Becker muscular dystrophy, a condition causing progressive muscle weakness. Early diagnosis aids in management.
Spast Gene Spg4 Genetic Test
The Spast Gene SPG4 NGS Genetic DNA Test identifies mutations in the SPAST gene linked to hereditary neurological disorders like Spastic Paraplegia Type 4. This test uses advanced Next-Generation Sequencing (NGS) technology for comprehensive analysis.
MRPL3 Gene Combined Oxidative Phosphorylation Deficiency Type 9 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the MRPL3 gene for mutations associated with Combined Oxidative Phosphorylation Deficiency Type 9, a metabolic disorder affecting mitochondrial function.
MTTL1 Gene MELAS Syndrome MTTL1 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the MTTL1 gene associated with MELAS syndrome, a metabolic disorder affecting the nervous system. Confirm with the laboratory before booking.
SFTPA2 Gene Pulmonary Fibrosis Idiopathic Genetic Test
This genetic test identifies mutations in the SFTPA2 gene, which are associated with an increased risk of developing idiopathic pulmonary fibrosis (IPF).
LIPN Gene Ichthyosis Lamellar Type 4 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the LIPN gene associated with Lamellar Ichthyosis Type 4. Helps in diagnosis and management.
TIMP1 Gene Bicuspid Aortic Valve Genetic Test
The TIMP1 Gene Bicuspid Aortic Valve NGS Genetic DNA Test identifies genetic predispositions to cardiovascular disorders, particularly those linked to bicuspid aortic valves. This test is valuable for individuals with a family history of heart conditions, offering early insights into potential health risks.
PAX2 Gene Focal Segmental Glomerulosclerosis Type 7 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the PAX2 gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney condition. Helps understand genetic risk and inform management.
EGLN1 Gene Erythrocytosis Familial Type 3 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to analyze the EGLN1 gene for mutations associated with Familial Erythrocytosis Type 3, a condition causing increased red blood cell production.
FLNB Gene Larsen Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the FLNB gene associated with Larsen syndrome. Helps in diagnosing skeletal abnormalities.
AKT1 Gene Cowden Syndrome Type 6 Genetic Test
Genetic test to detect mutations in the AKT1 gene associated with Cowden syndrome, a condition increasing the risk of certain cancers. Recommended for individuals with a family history or symptoms.
Hb Electrophorosis by HPLC
Hb Electrophorosis by HPLC is a diagnostic test used to identify various hemoglobin disorders like sickle cell disease and thalassemia. It helps in the early detection of genetic conditions.
Bacterial Pneumonia Multiplex Bordetella Legionella Klebsiella Detection Differentiation RNA Detection Qualitative Test
This test accurately identifies and differentiates between Bordetella, Legionella, and Klebsiella bacteria, common causes of pneumonia, using advanced RNA detection technology.
Human Genome Sequencing and Variant Calling 30X
Comprehensive genetic test analyzing your entire DNA sequence to identify variations linked to health risks and hereditary conditions. Offers insights for personalized medicine.
SALL4 Gene Duane Retraction Syndrome Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SALL4 gene associated with Duane Retraction Syndrome. Aids in diagnosis and management.
LAMP2 Gene Danon Disease Genetic Test
This genetic test analyzes the LAMP2 gene to help diagnose Danon disease, a rare condition affecting the heart and muscles. It uses advanced Next Generation Sequencing (NGS) technology.
NDUFAF6 Gene Leigh Syndrome Genetic Test
This genetic test identifies mutations in the NDUFAF6 gene associated with Leigh syndrome, a severe neurological disorder. It uses Next Generation Sequencing (NGS) technology to analyze DNA.
LMNA Gene Muscular Dystrophy Congenital LMNA Related Genetic Test
Genetic test to identify mutations in the LMNA gene associated with congenital muscular dystrophy and related neurological disorders.
SLC33A1 Gene SPG42 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SLC33A1 gene, associated with certain neurological disorders. Confirm with the laboratory before booking.
ALG11 Gene Congenital Disorder of Glycosylation Type Ip Genetic Test
Genetic test to identify mutations in the ALG11 gene, associated with Congenital Disorder of Glycosylation Type Ip, a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
ARSA Gene Metachromatic Leukodystrophy Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ARSA gene, associated with Metachromatic Leukodystrophy (MLD), a serious metabolic disorder affecting the nervous system. Early diagnosis is key.
WFS1 Gene Wolfram Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the WFS1 gene associated with Wolfram Syndrome Type 1. Helps in diagnosis and understanding hereditary patterns.
CLDN1 Gene Ichthyosis Leukocyte Vacuoles Alopecia and Sclerosing Cholangitis Genetic Test
Genetic test to identify mutations in the CLDN1 gene associated with ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.
Taz Gene Barth Syndrome Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the TAZ gene associated with Barth syndrome, a rare disorder affecting the heart and muscles. Confirm with the laboratory before booking.
CRB2 Gene Focal Segmental Glomerulosclerosis Type 9 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CRB2 gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney disorder. Helps in early detection and management.
F10 Gene Factor X Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the F10 gene associated with Factor X deficiency, a condition that can cause bleeding disorders. Helps identify individuals at risk for informed management.
Lefty2 Gene Leftright Axis Malformations Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LEFTY2 gene associated with left-right axis malformations and dysmorphology conditions.
Pik3ca Gene Cowden Syndrome Type 5 Genetic Test
This genetic test identifies mutations in the PIK3CA gene associated with Cowden syndrome, a condition increasing the risk of certain cancers. It uses Next-Generation Sequencing (NGS) technology.
HbE Hemoglobin E Mutation Screening
Screening test to detect the Hemoglobin E mutation, a genetic variant associated with certain blood disorders. Essential for individuals with relevant family history or symptoms.
Boca Virus RNA Detection Qualitative Test
Detects the presence of Boca virus RNA in respiratory samples to aid in diagnosing viral respiratory illnesses. Confirm with the laboratory before booking.
Human Exome Sequencing and Analysis SureSelect V6
Human Exome Sequencing and Analysis SureSelect V6 provides a detailed look at the coding regions of your genes to help identify potential genetic causes for health conditions.
ADAR Gene Dyschromatosis Symmetrica Hereditaria Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the ADAR gene associated with Dyschromatosis Symmetrica Hereditaria, a hereditary skin condition.
EGR2 Gene Dejerine-Sottas Disease Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the EGR2 gene associated with Dejerine-Sottas disease, a hereditary neurological disorder. Aids in early diagnosis and management.
NDUFS3 Gene Leigh Syndrome Genetic Test
The NDUFS3 Gene Leigh Syndrome NGS Genetic DNA Test helps diagnose neurological disorders linked to mutations in the NDUFS3 gene, associated with Leigh syndrome. This test uses Next Generation Sequencing (NGS) for accurate genetic analysis.
CHKB Gene Muscular Dystrophy Congenital Megaconial Type Genetic Test
Genetic test to identify mutations in the CHKB gene associated with Congenital Muscular Dystrophy, Megaconial Type. Uses Next-Generation Sequencing (NGS) technology.
C19orf12 Gene SPG43 Genetic Test
Genetic test to identify mutations in the C19orf12 gene associated with certain neurological disorders, like hereditary spastic paraplegia. Uses Next Generation Sequencing (NGS) technology.
SRD5A3 Gene Congenital Disorder of Glycosylation Type Iq Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the SRD5A3 gene, associated with Congenital Disorder of Glycosylation Type Iq. Helps diagnose metabolic disorders.
ACAT1 Gene Methylacetoacetic Aciduria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to detect mutations in the ACAT1 gene associated with Methylacetoacetic aciduria, a rare metabolic disorder.
MITF Gene Tietz Albinism Deafness Syndrome Genetic Test
Genetic test to identify mutations in the MITF gene associated with Tietz syndrome, characterized by albinism and hearing loss. Uses Next-Generation Sequencing (NGS) technology.
ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ELOVL4 gene for variations associated with ichthyosis, spastic quadriplegia, and mental retardation. Helps in diagnosing rare genetic disorders affecting skin and neurological function.
SCN5A Gene Brugada Syndrome Type 1 Genetic Test
Genetic test to identify mutations in the SCN5A gene associated with Brugada syndrome, a heart condition. Helps assess risk for individuals with a family history or symptoms.
LAMA5 Gene Focal Segmental Glomerulosclerosis LAMA5 Related Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the LAMA5 gene associated with Focal Segmental Glomerulosclerosis (FSGS), a kidney disorder. Helps assess risk and guide management.
EPAS1 Gene Erythrocytosis Familial Type 4 Genetic Test
Genetic test to identify mutations in the EPAS1 gene associated with Familial Erythrocytosis Type 4, a condition causing increased red blood cell production. Recommended for individuals with a family history of erythrocytosis.
PTDSS1 Gene LenzMajewski Hyperostotic Dwarfism Genetic Test
Genetic test to detect mutations in the PTDSS1 gene associated with Lenz-Majewski hyperostotic dwarfism, aiding in diagnosis and management.
CYLD Gene Cylindromatosis Familial Genetic Test
Genetic test to identify mutations in the CYLD gene associated with familial cylindromatosis, a condition linked to skin tumors. Helps assess genetic risk.
HbE Hemoglobin E Mutation Screening Prenatal
Prenatal screening to detect the Hemoglobin E mutation in an unborn child, helping assess the risk of hemoglobin disorders. Requires a doctor's prescription.
Human Exome Sequencing and Analysis Twist Human Core Exome
Human Exome Sequencing and Analysis Twist Human Core Exome analyzes the protein-coding regions of your DNA to identify genetic variations linked to health conditions. This test can provide insights into hereditary diseases and genetic predispositions.
COL15A1 Gene Early Onset Glaucoma Phenotype Modifier of COL15A1 Related Genetic Test
This genetic test identifies mutations in the COL15A1 gene associated with early onset glaucoma, helping individuals understand their risk and inform management strategies.
GJB1 Gene Dejerine-Sottas Disease Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GJB1 gene associated with Dejerine-Sottas disease, a hereditary neurological disorder. Helps in diagnosis and management.
NDUFS4 Gene Leigh Syndrome Genetic Test
Genetic test for mutations in the NDUFS4 gene associated with Leigh syndrome, a severe neurological disorder. Utilizes Next Generation Sequencing (NGS) technology.
DMD Gene Muscular Dystrophy Duchenne Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to detect mutations in the DMD gene, aiding in the diagnosis of Duchenne muscular dystrophy (DMD).
GJC2 Gene SPG44 Genetic Test
The GJC2 Gene SPG44 NGS Genetic DNA Test uses Next Generation Sequencing to identify mutations in the GJC2 gene, associated with certain neurological disorders. This test can provide insights for individuals with relevant symptoms or family history.
STT3A Gene Congenital Disorder of Glycosylation Type Iw Genetic Test
Genetic test for mutations in the STT3A gene, associated with Congenital Disorder of Glycosylation Type Iw (CDG-Iw), a metabolic disorder. Uses Next-Generation Sequencing (NGS) technology.
MTR Gene Methylcobalamin Deficiency CblG Type Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the MTR gene associated with methylcobalamin deficiency (CblG type), a metabolic disorder. Helps assess genetic risk.
CISD2 Gene Wolfram Syndrome Type 2 Genetic Test
Genetic test analyzing the CISD2 gene to identify mutations associated with Wolfram syndrome type 2, a rare disorder. Helps in diagnosis and management.
ICOS Gene Immunodeficiency Common Variable Type 1 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify variations in the ICOS gene associated with Common Variable Immunodeficiency (CVID).
GPD1L Gene Brugada Syndrome Type 2 Genetic Test
Genetic test for variations in the GPD1L gene associated with Brugada Syndrome Type 2, using Next-Generation Sequencing (NGS). Important for individuals with a family history of cardiovascular disorders.
INHBA Gene FSH Releasing Protein Deficiency Genetic Test
Genetic test to identify variations in the INHBA gene, which can be linked to FSH releasing protein deficiency and related endocrine disorders. Uses Next Generation Sequencing (NGS) technology.
NCF2 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Positive Type 2 Genetic Test
The NCF2 Gene Granulomatous Disease test identifies genetic mutations linked to chronic granulomatous disease using Next-Generation Sequencing (NGS). This test is recommended for individuals with a family history of granulomatous diseases.
BRAF Gene LEOPARD Syndrome Type 3 Genetic Test
Genetic test to identify BRAF gene mutations associated with LEOPARD syndrome type 3, aiding in diagnosis and management.
APC Gene Desmoid Disease Hereditary Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the APC gene associated with hereditary desmoid disease and increased cancer risk. Recommended for individuals with a family history or symptoms related to APC gene mutations.
Human Exome Sequencing SureSelect V6
Human Exome Sequencing SureSelect V6 analyzes the protein-coding regions of your DNA to identify genetic variations linked to health conditions. This test provides valuable insights for personalized healthcare.
Oncomine Acute Myeloid Leukaemia AML Panel Test
The Oncomine Acute Myeloid Leukaemia (AML) Panel Test uses advanced genetic sequencing to identify mutations associated with AML, helping guide personalized treatment.
ADAMTSL4 Gene Ectopia Lentis Et Pupillae Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the ADAMTSL4 gene, associated with eye conditions like ectopia lentis (lens dislocation) and pupillary abnormalities. Helps identify genetic risks for better management.
MPZ Gene Dejerine-Sottas Disease Genetic Test
Genetic test to identify mutations in the MPZ gene associated with Dejerine-Sottas disease, a neurological disorder. Helps in diagnosis and management.
NDUFS8 Gene Leigh Syndrome Genetic Test
The NDUFS8 Gene Leigh Syndrome NGS Genetic DNA Test identifies mutations in the NDUFS8 gene associated with Leigh syndrome, a severe neurological disorder. This test uses Next Generation Sequencing (NGS) technology to aid in diagnosis and management.
CAPN3 Gene Muscular Dystrophy Limb-Girdle Type 2A Genetic Test
Genetic test to identify mutations in the CAPN3 gene associated with Limb-Girdle Muscular Dystrophy Type 2A (LGMD2A).
AP4B1 Gene SPG47 Genetic Test
The AP4B1 Gene SPG47 NGS Genetic DNA Test identifies mutations in the AP4B1 gene linked to neurological disorders, aiding diagnosis and management.
CPOX Gene Coproporphyria Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CPOX gene associated with Coproporphyria, a metabolic disorder. Confirm with the laboratory before booking.
ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the ALDH6A1 gene, associated with Methylmalonate Semialdehyde Dehydrogenase Deficiency, a metabolic disorder. Confirm with the laboratory before booking.
WFS1 Gene Wolframlike Syndrome Autosomal Dominant Genetic Test
Genetic test for mutations in the WFS1 gene associated with Wolfram syndrome. Uses Next Generation Sequencing (NGS) technology to identify genetic predispositions. Consult your doctor to see if this test is right for you.
STS Gene Ichthyosis Xlinked Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the STS gene associated with X-linked Ichthyosis. Helps diagnose the condition and inform family planning.
CACNA1C Gene Brugada Syndrome Type 3 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the CACNA1C gene for mutations associated with Brugada Syndrome Type 3, a heart condition.
UGT1A1 Gene Gilbert Syndrome Genetic Test
Genetic test to identify variations in the UGT1A1 gene associated with Gilbert syndrome, a condition affecting bilirubin metabolism. Helps understand predisposition and manage symptoms.
Ncf4 Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type 3 Genetic Test
Genetic test to identify mutations in the NCF4 gene associated with chronic granulomatous disease (CGD), aiding in diagnosis and management.
GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the GLE1 gene associated with Lethal Congenital Contracture Syndrome Type 1. Aids in diagnosis, family planning, and management.
EGFR Gene Selective Sequencing of Exons 18-21 Genetic Test
This genetic test identifies specific mutations in the EGFR gene (exons 18-21) using Next Generation Sequencing (NGS). It helps guide targeted cancer treatment decisions, particularly for non-small cell lung cancer.
HBOC Extended Panel Hereditary Breast and Ovarian Cancer 32 Genes
The HBOC Extended Panel Hereditary Breast and Ovarian Cancer 32 Genes test assesses your genetic risk for breast and ovarian cancers by analysing 32 key genes. It's recommended for individuals with a significant family history of these cancers.
Bordetella Pertussis RNA Detection Qualitative Test
Detects the presence of Bordetella pertussis RNA to diagnose whooping cough, a contagious respiratory illness. This test helps identify active infections for timely treatment and prevention of spread.
Human Exome Sequencing Twist Human Core Exome
The Human Exome Sequencing Twist Human Core Exome test analyzes the coding regions of your DNA to identify genetic variations. This comprehensive genetic analysis can provide insights into potential health risks and guide personalized healthcare decisions.
JAK 2 Exon 12 Mutation Detection Test
The JAK 2 Exon 12 Mutation Detection Test identifies specific genetic mutations in the JAK2 gene, often linked to certain blood cancers like myeloproliferative neoplasms. This test helps guide diagnosis and treatment planning.
Oncomine Chronic Myeloid Leukaemia CML Panel Test
The Oncomine Chronic Myeloid Leukaemia (CML) Panel Test identifies specific genetic mutations associated with CML, aiding in diagnosis, treatment planning, and monitoring disease progression.
Succinylacetone Blood Test
The Succinylacetone Blood Test helps identify certain inborn errors of metabolism, particularly in children. Early detection is key for managing these conditions.
ADAMTSL4 Gene Ectopia Lentis Isolated Autosomal Recessive Genetic Test
This genetic test identifies mutations in the ADAMTSL4 gene associated with isolated ectopia lentis, a condition affecting the eye's lens. Using Next-Generation Sequencing (NGS) on a blood sample, it helps diagnose genetic predispositions to this ocular disorder.
PMP22 Gene Dejerine-Sottas Disease Genetic Test
Genetic test to identify mutations in the PMP22 gene associated with Dejerine-Sottas disease, a hereditary neuropathy. Helps in diagnosis and understanding family risk.
NDUFS7 Gene Leigh Syndrome Genetic Test
Genetic test to identify mutations in the NDUFS7 gene associated with Leigh syndrome, a severe neurological disorder. Helps in diagnosis and management.
Plec Gene Muscular Dystrophy Limb-Girdle Type 2Q Genetic Test
Genetic test to identify mutations in the PLEC gene associated with Limb-Girdle Muscular Dystrophy Type 2Q (LGMD2Q). Uses Next-Generation Sequencing (NGS) technology.
NT5C2 Gene SPG45 Genetic Test
The NT5C2 Gene SPG45 NGS Genetic DNA Test identifies genetic mutations linked to neurological disorders like Spastic Paraplegia Type 45 using Next Generation Sequencing (NGS).
VKORC1 Gene Coumarin Resistance Genetic Test
This genetic test assesses variations in the VKORC1 gene that may affect how your body responds to coumarin-based anticoagulant medications, helping guide treatment.
MMAA Gene Methylmalonic Aciduria CblA Type Genetic Test
Genetic test to identify mutations in the MMAA gene associated with methylmalonic aciduria (CblA type), a metabolic disorder. Utilizes Next Generation Sequencing (NGS) technology.
Abnormal Mineralization Panel Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations linked to mineralization disorders affecting bone, skin, and immune systems. Consult your doctor to see if this test is right for you.
NFKB2 Gene Immunodeficiency Common Variable Type 10 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to analyze the NFKB2 gene for variations associated with immunodeficiency disorders. Helps identify genetic predispositions to immune conditions.
CACNB2 Gene Brugada Syndrome Type 4 Genetic Test
Genetic test using Next Generation Sequencing (NGS) to identify mutations in the CACNB2 gene associated with Brugada Syndrome Type 4, a cardiac condition. Helps assess risk for individuals with a family history or symptoms.
SLC12A3 Gene Gitelman Syndrome Genetic Test
Genetic test to identify mutations in the SLC12A3 gene associated with Gitelman syndrome, helping understand symptoms and guide management.
CYBB Gene Granulomatous Disease Chronic X-Linked Genetic Test
Genetic test using Next-Generation Sequencing (NGS) to identify mutations in the CYBB gene associated with X-linked chronic granulomatous disease (CGD), an immune system disorder.
MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 Genetic Test
Genetic test analyzing the MYBPC1 gene to identify mutations associated with Lethal Congenital Contracture Syndrome Type 4. Helps in early diagnosis and family planning.
Msh6 Gene Endometrial Cancer Familial Msh6 Related Genetic Test
This genetic test assesses variations in the MSH6 gene, which can indicate an increased risk for endometrial cancer, particularly for those with a family history. It uses Next-Generation Sequencing (NGS) technology.
Hemochromatosis HFE Full Gene Sequence Analysis
Genetic test to identify mutations in the HFE gene associated with hereditary hemochromatosis, a condition causing excessive iron accumulation. Helps in early detection and management.
Bordetella Multiplex Bordetella Toxin, B. Pertussis, B. Holmensii, B. Parapolis Detection & Differentiation RNA Detection Qualitative Test
This test identifies specific Bordetella species (B. pertussis, B. holmensii, B. parapolis) using RNA detection technology. It helps diagnose respiratory illnesses caused by these bacteria.
Bacterial Genome De Novo Assembly and Annotation Illumina
Identify bacterial infections using advanced genetic analysis. This test sequences and analyzes the entire bacterial genome to help guide treatment.