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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

All diagnostic topics
First-line screen

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
First-line screen

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
First-line screen

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
First-line screen

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
First-line screen

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
First-line screen

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
First-line screen

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
First-line screen

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
First-line screen

IDUA Gene Hurler Syndrome Genetic Test

Sample type
A blood sample is required for this test. Confirm specific collection requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

IDUA Gene Hurler-Scheie Syndrome Genetic Test

Sample type
Blood sample (EDTA tube), extracted DNA, or dried blood spot on an FTA card.
Turnaround
4 Weeks Approximately 3 to 4 weeks.
Price
KSh 40,000
First-line screen

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
First-line screen

ACP2 Gene Lysosomal Acid Phosphatase Deficiency 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

MANBAL Gene Mannosidosis Beta A Lysosomal-Like 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
First-line screen

MAN2B1 Gene Mannosidosis-Alpha 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

MANBA Gene Mannosidosis-beta 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

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
First-line screen

IDUA Gene Mucopolysaccharidosis Type 1H 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
First-line screen

IDS Gene Mucopolysaccharidosis Type 2 Genetic Test

Sample type
Blood sample (usually collected in an EDTA tube) or saliva sample. Confirm specific requirements with the laboratory before booking.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

SGSH Gene Mucopolysaccharidosis Type 3A 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

NAGLU Gene Mucopolysaccharidosis Type 3B 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

HGSNAT Gene Mucopolysaccharidosis 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
First-line screen

GNS Gene Mucopolysaccharidosis Type 3D 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 current turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

GALNS Gene Mucopolysaccharidosis Type 4A Genetic Test

Sample type
Blood sample (EDTA tube) or extracted DNA.
Turnaround
Timing on request
Price
KSh 40,000
First-line screen

GLB1 Gene Mucopolysaccharidosis Type 4B 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 exact turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

Arsb Gene Mucopolysaccharidosis Type 6 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
First-line screen

GUSB Gene Mucopolysaccharidosis Type 7 Genetic Test

Sample type
Blood sample (EDTA tube) or extracted DNA. Confirm specific requirements with the laboratory before booking.
Turnaround
See timing details Confirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

HYAL1 Gene Mucopolysaccharidosis 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 details Confirm turnaround time with the laboratory before booking.
Price
KSh 40,000
First-line screen

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
First-line screen

NPC2 Gene Niemann-Pick Disease Type C2 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

HEXB Gene Sandhoff Disease Genetic Test

Sample type
A blood sample is required for this test. Confirm with the laboratory before booking.
Turnaround
Timing on request
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.

Quick factsheet

Sample
Preparation
Turnaround