Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
ACTA1 Gene Nemaline Myopathy Type 3 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. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
TPM2 Gene Nemaline 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
TNNT1 Gene Nemaline Myopathy Type 5 Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
KBTBD13 Gene Nemaline Myopathy Type 6 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
CFL2 Gene Nemaline Myopathy Type 7 Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm with the laboratory before booking.
Timing on request
KSh 40,000
PNPLA2 Gene Neutral Lipid Storage Disease with 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
GNE Gene Nonaka Myopathy Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
4 Weeks3 to 4 weeks.
KSh 40,000
RBCK1 Gene Polyglucosan Body Myopathy Type 1 With or Without Immunodeficiency Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One Drop Blood on FTA Card.
Timing on request
KSh 40,000
MYH7 Gene Scapuloperoneal Myopathy MYH7 Related Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
MYOT Gene Spheroid Body 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
TALDO1 Gene Transaldolase Deficiency Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
KSh 40,000
FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
TGFB3 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 1 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
Dsg2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 10 Genetic Test
First-line screen
Blood sample (collected in an EDTA tube) or extracted DNA.
Timing on request
KSh 40,000
DSC2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 11 Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube) or extracted DNA.
Timing on request
KSh 40,000
JUP Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 12 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
TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 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
DSP Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 8 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
PKP2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 9 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
SCO2 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Genetic Test
First-line screen
A blood sample (usually 3-5 mL) is required. Confirm specific sample type (e.g., EDTA tube) with the laboratory before collection.
Timing on request
KSh 40,000
Cox15 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 Genetic Test
First-line screen
Blood sample (EDTA tube), extracted DNA, or dried blood spot (DBS) on FTA card.
Timing on request
KSh 40,000
COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 Genetic Test
First-line screen
Blood sample (EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
MTATP8 Gene Cardiomyopathy Apical Hypertrophic and Neuropathy MTATP8 Related Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
MYBPC3 Gene Cardiomyopathy Dilated Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
CRYAB Gene Cardiomyopathy Dilated 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
LMNA Gene Cardiomyopathy Dilated Type 1A 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
ACTN2 Gene Cardiomyopathy Dilated Type 1AA Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
Dsg2 Gene Cardiomyopathy Dilated Type 1BB Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
LDB3 Gene Cardiomyopathy Dilated Type 1C 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
NEXN Gene Cardiomyopathy Dilated Type 1CC Genetic Test
First-line screen
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
First-line screen
ACTA1 Gene Nemaline Myopathy Type 3 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. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
TPM2 Gene Nemaline 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
TNNT1 Gene Nemaline Myopathy Type 5 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
First-line screen
KBTBD13 Gene Nemaline Myopathy Type 6 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
CFL2 Gene Nemaline Myopathy Type 7 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
First-line screen
PNPLA2 Gene Neutral Lipid Storage Disease with 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
GNE Gene Nonaka Myopathy Genetic Test
Sample type
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 Weeks3 to 4 weeks.
Price
KSh 40,000
First-line screen
RBCK1 Gene Polyglucosan Body Myopathy Type 1 With or Without Immunodeficiency Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One Drop Blood on FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
MYH7 Gene Scapuloperoneal Myopathy MYH7 Related Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
MYOT Gene Spheroid Body 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
TALDO1 Gene Transaldolase Deficiency Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks. Confirm exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
TGFB3 Gene Arrhythmogenic Right Ventricular Cardiomyopathy 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
First-line screen
Dsg2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 10 Genetic Test
Sample type
Blood sample (collected in an EDTA tube) or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
DSC2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 11 Genetic Test
Sample type
Blood sample (typically collected in an EDTA tube) or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
JUP Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 12 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
TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 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
DSP Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 8 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
PKP2 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 9 Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
SCO2 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Genetic Test
Sample type
A blood sample (usually 3-5 mL) is required. Confirm specific sample type (e.g., EDTA tube) with the laboratory before collection.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
Cox15 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 Genetic Test
Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot (DBS) on FTA card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 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
First-line screen
MTATP8 Gene Cardiomyopathy Apical Hypertrophic and Neuropathy MTATP8 Related 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
First-line screen
MYBPC3 Gene Cardiomyopathy Dilated 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
First-line screen
CRYAB Gene Cardiomyopathy Dilated 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
LMNA Gene Cardiomyopathy Dilated Type 1A 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
ACTN2 Gene Cardiomyopathy Dilated Type 1AA 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
First-line screen
Dsg2 Gene Cardiomyopathy Dilated Type 1BB Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
LDB3 Gene Cardiomyopathy Dilated Type 1C 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
NEXN Gene Cardiomyopathy Dilated Type 1CC Genetic Test
Sample type
Blood sample (typically collected in an EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 WeeksResults 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.
Book a genetic test
A counselor will help confirm the right next step.
