Available tests, sample type, turnaround time, price and booking options
Test name
Test role
Sample type
Turnaround
Price
Booking
Pompe Disease Quantitative Blood Test
First-line screen
10 mL (7.5 mL minimum) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes.
See timing detailsResults are typically available within four days.
KSh 8,000
GAA Gene Pompe Disease Genetic Test
First-line screen
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
PRKAG2 Gene Glycogen Storage Disease of Heart Lethal Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
GYS2 Gene Glycogen Storage Disease Type 0 Genetic Test
First-line screen
Blood sample (collected in an appropriate tube), Extracted DNA, or One Drop Blood on FTA Card.
Timing on request
KSh 40,000
GYS1 Gene Glycogen Storage Disease Type 0 Muscle Genetic Test
First-line screen
Blood sample, Extracted DNA, or One drop of Blood on FTA Card.
4 Weeks3 to 4 Weeks.
KSh 40,000
PGAM2 Gene Glycogen Storage Disease Type 10 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
LDHA Gene Glycogen Storage Disease Type 11 Genetic Test
First-line screen
Blood sample (EDTA tube) or Extracted DNA. Alternatively, one drop of blood on an FTA card.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
Aldoa Gene Glycogen Storage Disease Type 12 Genetic Test
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks.
KSh 40,000
ENO3 Gene Glycogen Storage Disease Type 13 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
PGM1 Gene Glycogen Storage Disease Type 14 Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm with the laboratory before booking.
Timing on request
KSh 40,000
Gyg1 Gene Glycogen Storage Disease Type 15 Genetic Test
First-line screen
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
4 WeeksApproximately 3 to 4 weeks.
KSh 40,000
G6PC Gene Glycogen Storage Disease Type 1A Genetic Test
First-line screen
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
4 WeeksResults are typically available within 3 to 4 weeks. Confirm the current turnaround time with the laboratory before booking.
KSh 40,000
GAA Gene Glycogen Storage Disease Type 2 Genetic Test
First-line screen
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Timing on request
KSh 40,000
AGL Gene Glycogen Storage Disease Type 3 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
Gbe1 Gene Glycogen Storage Disease Type 4 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
PYGM Gene Glycogen Storage Disease Type 5 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
PYGL Gene Glycogen Storage Disease Type 6B 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
PFKM Gene Glycogen Storage Disease Type 7 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
PHKA2 Gene Glycogen Storage Disease Type 9A 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
PHKB Gene Glycogen Storage Disease Type 9B Genetic Test
First-line screen
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 40,000
PHKG2 Gene Glycogen Storage Disease Type 9C 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
PHKA1 Gene Muscle Glycogenosis 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
Glycogen Storage Disorder Gene Panel
First-line screen
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
See timing detailsConfirm turnaround time with the laboratory before booking.
KSh 72,000
First-line screen
Pompe Disease Quantitative Blood Test
Sample type
10 mL (7.5 mL minimum) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes.
Turnaround
See timing detailsResults are typically available within four days.
Price
KSh 8,000
First-line screen
GAA Gene Pompe Disease Genetic Test
Sample type
Blood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
PRKAG2 Gene Glycogen Storage Disease of Heart Lethal 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
GYS2 Gene Glycogen Storage Disease Type 0 Genetic Test
Sample type
Blood sample (collected in an appropriate tube), Extracted DNA, or One Drop Blood on FTA Card.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen
GYS1 Gene Glycogen Storage Disease Type 0 Muscle Genetic Test
Sample type
Blood sample, Extracted DNA, or One drop of Blood on FTA Card.
Turnaround
4 Weeks3 to 4 Weeks.
Price
KSh 40,000
First-line screen
PGAM2 Gene Glycogen Storage Disease Type 10 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
LDHA Gene Glycogen Storage Disease Type 11 Genetic Test
Sample type
Blood sample (EDTA tube) or Extracted DNA. Alternatively, one drop of blood on an FTA card.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
Aldoa Gene Glycogen Storage Disease Type 12 Genetic Test
Sample type
Blood sample (EDTA tube) or Saliva sample. 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
ENO3 Gene Glycogen Storage Disease Type 13 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
PGM1 Gene Glycogen Storage Disease Type 14 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
Gyg1 Gene Glycogen Storage Disease Type 15 Genetic Test
Sample type
Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
Turnaround
4 WeeksApproximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen
G6PC Gene Glycogen Storage Disease Type 1A Genetic Test
Sample type
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Turnaround
4 WeeksResults are typically available within 3 to 4 weeks. Confirm the current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen
GAA Gene Glycogen Storage Disease Type 2 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
AGL Gene Glycogen Storage Disease Type 3 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
Gbe1 Gene Glycogen Storage Disease Type 4 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
PYGM Gene Glycogen Storage Disease Type 5 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
PYGL Gene Glycogen Storage Disease Type 6B 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
PFKM Gene Glycogen Storage Disease Type 7 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
PHKA2 Gene Glycogen Storage Disease Type 9A 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
PHKB Gene Glycogen Storage Disease Type 9B Genetic Test
Sample type
Blood sample (EDTA tube) or extracted DNA. 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
PHKG2 Gene Glycogen Storage Disease Type 9C 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
PHKA1 Gene Muscle Glycogenosis 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
Glycogen Storage Disorder Gene Panel
Sample type
Blood sample (EDTA tube) or Saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
See timing detailsConfirm turnaround time with the laboratory before booking.
Price
KSh 72,000
Clinical context
Clinical testing guide & how to choose
Tests in Glycogen Storage Diseases (GSD / Pompe) 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 Glycogen Storage Diseases (GSD / Pompe)?+
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.
