Lebers Hereditary Optic Neuropathy LHON Mitochondrial Mutation Detection Test
- Sample type
- 4 mL (2 mL minimum) of whole blood collected in a lavender top (EDTA) tube.
- Turnaround
- Timing on request
- Price
- KSh 50,000
Compare available tests
Hereditary Neuropathies (CMT & Dejerine-Sottas)
PMP22/MPZ/GJB1 CMT 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
91 tests
Nx Gen Sequencing Charcot-Marie-Tooth Disease Sensory Neuropathies Test
- Sample type
- 10 mL (5 mL minimum) of whole blood collected in two Lavender Top (EDTA) tubes.
- Turnaround
- Timing on request
- Price
- KSh 46,800
Spinobulbar Muscular Atrophy Test
- Sample type
- 4 mL (2 mL minimum) whole blood collected in a Lavender top (EDTA) tube.
- Turnaround
- Timing on request
- Price
- KSh 22,000
IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
DHH Gene 46XY Gonadal Dysgenesis Partial with Minifascicular Neuropathy Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm specific volume and tube type with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy Genetic Test
- Sample type
- Blood sample (typically 5-10ml 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
SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy Genetic Test
- Sample type
- Blood sample (EDTA tube) or extracted DNA. A single drop of blood on an FTA card is also acceptable.
- Turnaround
- 25 Days Approximately 25 days to 4 weeks.
- Price
- KSh 40,000
CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
Dync1h1 Gene Charcot-Marie-Tooth Disease Axonal Type 20 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
PMP22 Gene CMT1A 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
MPZ Gene CMT1B Genetic Test
- Sample type
- Blood sample (EDTA tube) or extracted DNA.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
LITAF Gene CMT1C Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
EGR2 Gene CMT1D 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
PMP22 Gene CMT1E 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
KIF1B Gene CMT2A1 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
MFN2 Gene CMT2A2 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 in approximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
- Price
- KSh 40,000
RAB7A Gene CMT2B Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
LMNA Gene CMT2B1 Genetic Test
- Sample type
- A blood sample is required for this test. Confirm specific volume and collection tube requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
MED25 Gene CMT2B2 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
TRPV4 Gene CMT2C 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
GARS1 Gene CMT2D 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.
- Price
- KSh 40,000
HSPB1 Gene CMT2F Genetic Test
- Sample type
- Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
MPZ Gene CMT2I Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card.
- Turnaround
- Timing on request
- Price
- KSh 40,000
MPZ Gene CMT2J 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
GDAP1 Gene CMT2K 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
HSPB8 Gene CMT2L 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
AARS1 Gene CMT2N 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
LRSAM1 Gene CMT2P 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
CTDP1 Gene CMT4 CTDP1 Related 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
GDAP1 Gene CMT4A 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
Clinical context
Clinical testing guide & how to choose
Tests in Hereditary Neuropathies (CMT & Dejerine-Sottas) 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 Hereditary Neuropathies (CMT & Dejerine-Sottas)?
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.