FLNA Gene Melnick-Needles Syndrome Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
Compare available tests
Other Rare Neurogenetic Syndromes
Comprehensive Neurogene Sequencing
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
181 tests
MAT1A Gene Methionine Adenosyltransferase Deficiency Autosomal Recessive Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
DCC Gene Mirror Movements Type 1 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
RAD51 Gene Mirror Movements Type 2 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
POMK Gene Muscle-Eye-Brain Disease POMK Related Genetic Test
- Sample type
- Blood sample, Extracted DNA, or One Drop Blood on FTA Card.
- Turnaround
- Timing on request
- Price
- KSh 40,000
CAPN1 Gene Muscularskeletal Disorder CAPN1 Related 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
COL6A2 Gene Myosclerosis Autosomal Recessive 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
CLCN1 Gene Myotonia Congenita Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks Typically 3 to 4 weeks.
- Price
- KSh 40,000
HSPB1 Gene Neuronopathy Distal Hereditary Motor Type 2B 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
NDP Gene Norrie Disease Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or dried blood spot on FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
ATP7A Gene Occipital Horn Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
MID1 Gene Opitz G Syndrome Genetic Test
- Sample type
- Blood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
OFD1 Gene Oralfacialdigital 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
SCN4A Gene Paramyotonia Congenita of von Eulenburg Genetic Test
- Sample type
- A blood sample is required for this test. Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
ALX4 Gene Parietal Foraminal Type 2 Genetic Test
- Sample type
- Blood sample (typically 5-10ml in an EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
PNKD Gene Paroxysmal Nonkinesigenic Dyskinesia 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
HSD17B4 Gene Perrault 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
HARS2 Gene Perrault Syndrome Type 2 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific volume and collection 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
LARS2 Gene Perrault Syndrome Type 4 Genetic Test
- Sample type
- Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
- Turnaround
- 4 Weeks 3 to 4 weeks.
- Price
- KSh 40,000
TWNK Gene Perrault Syndrome Type 5 Genetic Test
- Sample type
- Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
- Turnaround
- See timing details Confirm turnaround time with the laboratory before booking.
- Price
- KSh 40,000
PGK1 Gene Phosphoglycerate Kinase 1 Deficiency Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TREM2 Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 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
TYROBP Gene Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 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
VRK1 Gene Pontocerebellar Hypoplasia Type 1A 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
EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test
- Sample type
- Blood sample, Extracted DNA, or One drop of blood on an FTA card.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
TSEN2 Gene Pontocerebellar Hypoplasia Type 2B 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
TSEN34 Gene Pontocerebellar Hypoplasia Type 2C Genetic Test
- Sample type
- Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
Sepsecs Gene Pontocerebellar Hypoplasia Type 2D 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
VPS53 Gene Pontocerebellar Hypoplasia Type 2E Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
Clinical context
Clinical testing guide & how to choose
Tests in Other Rare Neurogenetic 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 Other Rare Neurogenetic 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.