Fabry Disease Quantitative Blood Test
- Sample type
- 10 mL (5-7 mL minimum) of whole blood in 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes.
- Turnaround
- Timing on request
- Price
- KSh 7,000
Compare available tests
Sphingolipidoses (Gaucher, Tay-Sachs, Krabbe)
GBA/HEXA/GALC Enzyme & Gene 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
35 tests
Gaucher 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
- Timing on request
- Price
- KSh 7,000
GM1 Gangliosidosis 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
- 4 Days Reports are typically available within 4 days after sample receipt.
- Price
- KSh 3,978
GM2 Gangliosidosis Quantitative Blood Tay Sachs Sandhoff Disease Test
- Sample type
- 10 mL (7.5 mL minimum) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium heparin) tubes.
- Turnaround
- 4 Days Approximately 4 days. Samples are accepted daily until 4 PM.
- Price
- KSh 7,000
Metachromatic Leucodystrophy Quantitative Blood Test
- Sample type
- Three Lavender Top (EDTA) tubes or three Green Top (Sodium Heparin) tubes. Minimum volume: 7.5 mL per tube (total 10 mL).
- Turnaround
- See timing details Results are typically available within four days.
- Price
- KSh 7,000
Niemann Pick 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
- Timing on request
- Price
- KSh 5,124
Prenatal Diagnosis Panel 1 Chorionic Villus Biopsy Test
- Sample type
- Chorionic Villus Biopsy (CVS) sample.
- Turnaround
- 5 Days Results are typically available within 5 days.
- Price
- KSh 93,600
Sphingolipidosis Panel 1 Test
- Sample type
- 10 mL (7.5 mL minimum) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes.
- Turnaround
- Timing on request
- Price
- KSh 24,000
Sphingolipidosis Panel 2 Test
- Sample type
- 10 mL (7.5 mL minimum) of whole blood collected in either Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes.
- Turnaround
- See timing details Results are typically available within four days.
- Price
- KSh 11,000
Sphingolipidosis Panel 3 Test
- Sample type
- 10 mL (7.5 mL minimum) of whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes.
- Turnaround
- See timing details Results are typically available within four days after sample collection.
- Price
- KSh 14,000
GLB1 Gene GM1gangliosidosis Genetic Test
- Sample type
- Blood sample (EDTA tube), extracted DNA, or a single drop of blood on an FTA card.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
GALC Gene Krabbe Disease Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
PSAP Gene Metachromatic Leukodystrophy Due to Saposin B Deficiency Genetic Test
- Sample type
- Blood sample (EDTA tube) or Saliva sample (collection kit provided). Confirm specific requirements with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
NPC1 Gene Niemann-Pick Disease Type C1 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
LIPA Gene Cholesteryl Ester Storage Disease 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
GLA Gene Fabry Disease Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks Results are typically available within 3 to 4 weeks.
- Price
- KSh 40,000
ASAH1 Gene Farber Disease 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
CTSA Gene Galactosialidosis 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
GBA Gene Gaucher Disease Type 1 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
GBA Gene Gaucher Disease Type 2 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
GBA Gene Gaucher Disease Type 3 Genetic Test
- Sample type
- Blood sample (EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- Timing on request
- Price
- KSh 40,000
GBA Gene Gaucher Disease Type 3C 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
PSAP Gene Gaucher Disease Atypical 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
GBA Gene Gaucher Disease Perinatal Lethal 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
GLB1 Gene GM1-Gangliosidosis Type 1 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
GLB1 Gene GM1gangliosidosis Type 2 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
HEXB Gene GM2gangliosidosis Type 2 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
PSAP Gene Krabbe Disease Atypical Genetic Test
- Sample type
- Blood sample (usually collected in an EDTA tube). Confirm with the laboratory before booking.
- Turnaround
- 4 Weeks Approximately 3 to 4 weeks.
- Price
- KSh 40,000
ARSA Gene Metachromatic Leukodystrophy 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
SMPD1 Gene Niemann-Pick Disease Type AB 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
Clinical context
Clinical testing guide & how to choose
Tests in Sphingolipidoses (Gaucher, Tay-Sachs, Krabbe) 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 Sphingolipidoses (Gaucher, Tay-Sachs, Krabbe)?
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.