Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
Aldolase Test
First-line screen
2 mL (0.5 mL min.) serum from 1 SST OR 2 mL (0.5 mL min) plasma from 1 Green Top (Sodium Heparin) / Lavender Top (EDTA) tube. Hemolysed specimens are not acceptable. Ship refrigerated or frozen.
Same DaySample Mon / Thu by 2 pm; Report Same day.
KSh 1,614
CK CPK Isoenzyme Electrophoresis Test
First-line screen
2 mL (1.5 mL minimum) serum collected in a Serum Separator Tube (SST). Hemolysed specimens are not acceptable.
Timing on request
KSh 22,000
CK CPK Creatine Kinase Test
First-line screen
Blood sample (serum)
Timing on request
KSh 608
CKMB CPKMB Test
First-line screen
Blood sample (serum). Confirm with the laboratory before booking.
Timing on request
KSh 982
Micm Maternal Inherited Cardiomyopathy Mutation Detection Test
First-line screen
4 mL (2 mL minimum) whole blood in one Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. A completed Genomics Clinical Information Requisition Form (Form 20) is mandatory.
10 DaysReport available in 10 days. Sample must be received daily by 11 am.
KSh 21,000
Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes MELAS Mutation Detection Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
See timing detailsResults are typically available within one week. Confirm exact turnaround time with the laboratory before booking.
KSh 15,000
MMC Maternal Myopathy with Cardiomyopathy Mutation Detection Test
First-line screen
4 mL (2 mL minimum) whole blood collected in a Lavender top (EDTA) tube.
10 DaysResults are typically available within 10 days after the sample is received by the laboratory.
KSh 23,000
Nx Gen Sequencing Bethlem Myopathy Myofibrillar Myopathy Ullrich Muscular Dystrophy Test
First-line screen
10 mL (5 mL minimum) of whole blood collected in two Lavender Top (EDTA) tubes.
Timing on request
KSh 46,800
COL6A1 Gene Bethlem Myopathy Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
COL6A2 Gene Bethlem Myopathy Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
COL6A3 Gene Bethlem Myopathy Type 1 Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
ATP2A1 Gene Brody Myopathy Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
LDB3 Gene Cardiomyopathy Hypertrophic Type 24 Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
4 Weeks3 to 4 weeks.
KSh 40,000
Ryr1 Gene Central Core Disease Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
Dnm2 Gene Centronuclear Myopathy Type 1 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test
First-line screen
A blood sample (usually 5-10ml) is required. Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test
First-line screen
A sample of blood, extracted DNA, or one drop of blood on an FTA card.
4 WeeksThe expected turnaround time for results is 3 to 4 weeks.
KSh 40,000
MYF6 Gene Centronuclear Myopathy Type 3 Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific volume and collection tube requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
CCDC78 Gene Centronuclear Myopathy Type 4 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
SPEG Gene Centronuclear Myopathy Type 5 Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA card.
Timing on request
KSh 40,000
CNTN1 Gene ComptonNorth Congenital Myopathy Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
MTTL2 Gene Encephalomyopathy Mitochondrial MTTL2 Related Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
MTTR Gene Encephalomyopathy Mitochondrial MTTR Related Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA Card.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
TTN Gene Hereditary Myopathy with Early Respiratory Failure Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
GNE Gene Inclusion Body Myopathy Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
MYH2 Gene Inclusion Body Myopathy Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific volume requirements with the laboratory before booking.
Timing on request
KSh 40,000
RYR1 Gene King-Denborough Syndrome Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
Ryr1 Gene Minicore Myopathy With External Ophthalmoplegia Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
MFF Gene Mitochondrial Encephalomyopathy Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
First-line screen
Aldolase Test
Sample type
2 mL (0.5 mL min.) serum from 1 SST OR 2 mL (0.5 mL min) plasma from 1 Green Top (Sodium Heparin) / Lavender Top (EDTA) tube. Hemolysed specimens are not acceptable. Ship refrigerated or frozen.
Turnaround
Same DaySample Mon / Thu by 2 pm; Report Same day.
Price
KSh 1,614
First-line screen
CK CPK Isoenzyme Electrophoresis Test
Sample type
2 mL (1.5 mL minimum) serum collected in a Serum Separator Tube (SST). Hemolysed specimens are not acceptable.
Turnaround
Timing on request
Price
KSh 22,000
First-line screen
CK CPK Creatine Kinase Test
Sample type
Blood sample (serum)
Turnaround
Timing on request
Price
KSh 608
First-line screen
CKMB CPKMB Test
Sample type
Blood sample (serum). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 982
First-line screen
Micm Maternal Inherited Cardiomyopathy Mutation Detection Test
Sample type
4 mL (2 mL minimum) whole blood in one Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. A completed Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Turnaround
10 DaysReport available in 10 days. Sample must be received daily by 11 am.
Price
KSh 21,000
First-line screen
Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes MELAS Mutation Detection Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsResults are typically available within one week. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 15,000
First-line screen
MMC Maternal Myopathy with Cardiomyopathy Mutation Detection Test
Sample type
4 mL (2 mL minimum) whole blood collected in a Lavender top (EDTA) tube.
Turnaround
10 DaysResults are typically available within 10 days after the sample is received by the laboratory.
Price
KSh 23,000
First-line screen
Nx Gen Sequencing Bethlem Myopathy Myofibrillar Myopathy Ullrich Muscular Dystrophy 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
First-line screen
COL6A1 Gene Bethlem Myopathy 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
First-line screen
COL6A2 Gene Bethlem Myopathy Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
COL6A3 Gene Bethlem Myopathy Type 1 Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
ATP2A1 Gene Brody Myopathy Genetic Test
Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
LDB3 Gene Cardiomyopathy Hypertrophic Type 24 Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
Ryr1 Gene Central Core Disease 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
First-line screen
Dnm2 Gene Centronuclear Myopathy Type 1 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
First-line screen
MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test
Sample type
A blood sample (usually 5-10ml) is required. Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test
Sample type
A sample of blood, extracted DNA, or one drop of blood on an FTA card.
Turnaround
4 WeeksThe expected turnaround time for results is 3 to 4 weeks.
Price
KSh 40,000
First-line screen
MYF6 Gene Centronuclear Myopathy Type 3 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
4 WeeksResults are typically available within 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
CCDC78 Gene Centronuclear Myopathy 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
First-line screen
SPEG Gene Centronuclear Myopathy Type 5 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
First-line screen
CNTN1 Gene ComptonNorth Congenital Myopathy 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
First-line screen
MTTL2 Gene Encephalomyopathy Mitochondrial MTTL2 Related Genetic Test
Sample type
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
MTTR Gene Encephalomyopathy Mitochondrial MTTR Related Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or one drop of blood on an FTA Card.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks.
Price
KSh 40,000
First-line screen
TTN Gene Hereditary Myopathy with Early Respiratory Failure 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
First-line screen
GNE Gene Inclusion Body Myopathy 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
First-line screen
MYH2 Gene Inclusion Body Myopathy 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
First-line screen
RYR1 Gene King-Denborough Syndrome 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
First-line screen
Ryr1 Gene Minicore Myopathy With External Ophthalmoplegia Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
MFF Gene Mitochondrial Encephalomyopathy Genetic Test
Sample type
Blood sample (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 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.
Book a genetic test
A counselor will help confirm the right next step.
