ZIC2 Gene Holoprosencephaly Type 5 Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
Compare available tests
Neurodevelopmental & Brain Malformation Syndromes
Holoprosencephaly/Cerebellar/Joubert Panels
Catalog role labels reflect current assignments. Test choice, timing and prices require clinician or laboratory confirmation.
- KMLTTB Regulated Laboratory
- ISO 9001:2015 Quality System
- Free Pre-Test Counselor Guidance
- Nationwide & Home Sample Collection
Test comparison
98 tests
GLI2 Gene Holoprosencephaly-Type 9 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Typically 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
KMT2D Gene Kabuki Syndrome Type 1 Genetic Test
- Sample type
- A blood sample (usually 3-5 mL) is required. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
ANKRD11 Gene KBG Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
EHMT1 Gene Kleefstra Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.
- Turnaround
- See timing details Confirm turnaround time with the laboratory before booking.
- Price
- KSh 40,000
KANSL1 Gene Koolen Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TUBA1A Gene Lissencephaly Type 3 Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
AKT3 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Type 2 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- See timing details Confirm turnaround time with the laboratory before booking.
- Price
- KSh 40,000
ASPM Gene Microcephaly Autosomal Recessive Type 5 Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a dried blood spot on an FTA card.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
STIL Gene Microcephaly Autosomal Recessive Type 7 Genetic Test
- Sample type
- Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
Rttn Gene Microcephaly Short Stature and Polymicrogyria with Seizures Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
B3GAT3 Gene Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism and Congenital Heart Defects Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
SHOC2 Gene Noonan Syndrome Like Genetic Test
- Sample type
- Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
Ptpn11 Gene Noonan Syndrome Type 1 Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
LZTR1 Gene Noonan Syndrome Type 10 Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
KRAS Gene Noonan Syndrome Type 3 Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
SOS1 Gene Noonan Syndrome Type 4 Genetic Test
- Sample type
- Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
RAF1 Gene Noonan Syndrome Type 5 Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
- Turnaround
- Timing on request
- Price
- KSh 40,000
NRAS Gene Noonan Syndrome Type 6 Genetic Test
- Sample type
- Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
BRAF Gene Noonan Syndrome Type 7 Genetic Test
- Sample type
- A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
RIT1 Gene Noonan Syndrome Type 8 Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a dried blood spot on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
CBL Gene Noonan Syndromelike Disorder with or without Juvenile Meylomonocytic Leukemia Genetic Test
- Sample type
- Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
- Turnaround
- Timing on request
- Price
- KSh 40,000
Chr 22q133 Gene Phelan-McDermid Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
NRXN1 Gene Pitt-Hopkins Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TCF4 Gene Pitt-Hopkins Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
MECP2 Gene Rett Syndrome Genetic Test
- Sample type
- A blood sample is required for this test. Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
Foxg1 Gene Rett Syndrome Congenital Variant Genetic Test
- Sample type
- Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
Crebbp Gene Rubinstein-Taybi Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
EP300 Gene Rubinstein-Taybi Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
Clinical context
Clinical testing guide & how to choose
Tests in Neurodevelopmental & Brain Malformation Syndromes answer different clinical questions. This catalogue supports a conversation with your clinician or counselor; it does not establish a diagnosis or replace an individual assessment.
Choosing a test
A comprehensive panel measures several related markers, while a single-marker test addresses a more focused question. A larger panel is not automatically the right choice. Discuss your symptoms, previous results and referral with a qualified clinician before selecting tests. Results should not be interpreted in isolation.
Before sample collection
Confirm the required tube, sample volume, any fasting instructions and the collection deadline for your chosen test. Tell the collection team about medication and recent treatment. Do not stop prescribed medication unless your clinician advises it. Home collection depends on the sample’s handling and transport requirements.
Common questions
Questions before booking
Should I choose a panel or a single-marker test for Neurodevelopmental & Brain Malformation Syndromes?
A comprehensive panel measures several related markers, while a single-marker test addresses a more focused question. A larger panel is not automatically the right choice. Discuss your symptoms, previous results and referral with a qualified clinician before selecting tests. Results should not be interpreted in isolation. Free pre-test counselor guidance is available to help you understand the booking options.
Can I use SHIF/SHA or private insurance for these tests?
Coverage depends on your scheme, the specific test, referral and authorization requirements, and the provider arrangement. Before booking, ask the laboratory and your insurer to verify eligibility, any co-payment, and whether direct billing or reimbursement applies. Listing a test here does not guarantee insurance coverage.
When should I arrange sample collection?
Check the sample and preparation notes for the specific test, then confirm the collection time and reporting deadline with the laboratory. Same-day reporting, where listed, may depend on a collection cutoff and working days. Nationwide and home sample collection are available subject to location, sample suitability and transport arrangements.