MTCYB Gene Mitochondrial Encephalomyopathy Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
Compare available tests
Congenital & Hereditary Myopathies
RYR1/SEPN1/COL6 Myopathy 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
157 tests
PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
DYSF Gene Miyoshi Myopathy 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
ITGA7 Gene Myopathy Due To Integrin 7A Deficiency Genetic Test
- Sample type
- Blood sample (EDTA tube) or extracted DNA. 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
AMPD1 Gene Myopathy Due To Myoadenylate Deaminase Deficiency Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
MicU1 Gene Myopathy with Extrapyramidal Signs 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
ACTA1 Gene Myopathy With Fiber-Type Disproportion 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
Selenon Gene Myopathy with Fiber-Type Disproportion 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
MEGF10 Gene Myopathy Areflexia Respiratory Distress and Dysphagia Early-Onset 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
COL6A6 Gene Myopathy COL6A6 Related 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
CRYAB Gene Myopathy Desmin Related Associated With Mutation In The CRYAB Gene 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
- 4 Weeks 3 to 4 Weeks.
- Price
- KSh 40,000
MYH7 Gene Myopathy Distal Type 1 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
FLNC Gene Myopathy Distal Type 4 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
DYSF Gene Myopathy Distal with Anterior Tibial Onset 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
CAV3 Gene Myopathy Distal Tateyama Type 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
TTN Gene Myopathy Early-Onset with Fatal Cardiomyopathy 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
YARS2 Gene Myopathy Lactic Acidosis and Sideroblastic Anemia Type 2 Genetic Test
- Sample type
- Blood sample, Extracted DNA, or One drop of blood on an FTA Card.
- Turnaround
- 4 Weeks 3 to 4 Weeks.
- Price
- KSh 40,000
MTAP Gene Myopathy Limb Girdle with Bone Fragility 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
GFER Gene Myopathy Mitochondrial Progressive with Congenital Cataract Hearing Loss and Developmental Delay Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific volume and collection requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
MTTQ Gene Myopathy MTTQ Related Genetic Test
- Sample type
- Blood sample (EDTA tube) or extracted DNA. In some cases, a drop of blood on an FTA card may be acceptable. Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
BAG3 Gene Myopathy Myofibrillar Type 6 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
DES Gene Myopathy Myofibrillar Desmin Related Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks 3 to 4 weeks.
- Price
- KSh 40,000
CRYAB Gene Myopathy Myofibrillar Fatal Infantile Hypertrophy AlphaB Crystallin-Related Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
LDB3 Gene Myopathy Myofibrillar ZASP Related 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
ACTA1 Gene Myopathy Scapulohumeroperoneal 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
STIM1 Gene Myopathy Tubular Aggregate Type 1 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
MYH7 Gene Myosin Storage Myopathy 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
MTM1 Gene Myotubular Myopathy Xlinked Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks 3 to 4 weeks.
- Price
- KSh 40,000
TPM3 Gene Nemaline Myopathy Type 1 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
NEB Gene Nemaline Myopathy Type 2 Autosomal Recessive Genetic Test
- Sample type
- A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
- 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 Congenital & Hereditary Myopathies 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 Congenital & Hereditary Myopathies?
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.