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
Lysosomal Storage Diseases (MPS, Gaucher, Fabry)
Enzyme Assays & Lysosomal 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
66 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
Mucopolysaccharidosis MPS Screen Urine Test
- Sample type
- 10 ml (5 ml minimum) of first morning urine collected in a sterile, screw-capped container. Do not add preservatives.
- Turnaround
- See timing details Report typically available the next day if the sample is received by 4 pm. for current turnaround times.
- Price
- KSh 819
Mucopolysaccharidosis MPS Type 1 Hurler Quantitative Blood Test
- Sample type
- 10 mL (7.5 mL minimum) whole blood collected in three Lavender Top (EDTA) tubes or Green Top (Sodium Heparin) tubes.
- Turnaround
- 4 Days Report available in 4 days after sample receipt.
- Price
- KSh 13,000
Mucopolysaccharidosis MPS Type VI Maroteaux Lamy Quantitative Blood Test
- Sample type
- Blood sample (specific tube type required - confirm with the laboratory before booking).
- Turnaround
- Timing on request
- Price
- KSh 3,837
Mumps Virus Antibodies Panel IgG IgM Test
- Sample type
- 2 mL (1 mL minimum) serum collected in an SST tube.
- Turnaround
- Same Day Results typically available the same day if the sample is collected by 9:00 AM.
- Price
- KSh 9,000
Mumps Virus Antibody IgG Test
- Sample type
- 2 mL (1 mL minimum) serum collected in an SST tube.
- Turnaround
- Same Day Samples collected on Monday, Wednesday, or Friday by 9 am typically have results available the same day.
- Price
- KSh 3,744
Mumps Virus Antibody IgM Test
- Sample type
- Serum (Blood Sample)
- Turnaround
- Same Day Same day results are typically available.
- Price
- KSh 3,744
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
FUCA1 Gene Fucosidosis Genetic Test
- Sample type
- A blood sample is required for this test. Confirm specific sample type (e.g., EDTA tube) and volume with the laboratory before collection.
- Turnaround
- Timing on request
- Price
- KSh 40,000
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
Lysosomal Storage Disorders Enzyme Panel 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
MPS Enzyme Panel 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
AGA Gene Aspartylglucosaminuria Genetic Test
- Sample type
- Blood sample, Extracted DNA, or one drop of blood on an FTA card. Confirm specific requirements with the laboratory before booking.
- 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
CTNS Gene Cystinosis Nephropathic 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 the current turnaround time with the laboratory before booking.
- 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
Clinical context
Clinical testing guide & how to choose
Tests in Lysosomal Storage Diseases (MPS, Gaucher, Fabry) 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 Lysosomal Storage Diseases (MPS, Gaucher, Fabry)?
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.