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Medical information Clinical review pending

Genetic Testing

Gaucher Disease Quantitative Blood Test

This test measures the activity of the glucocerebrosidase enzyme in the blood to help diagnose Gaucher disease, a rare inherited metabolic disorder. Confirm with the laboratory before booking.

General information only: This page is not a diagnosis or personal medical advice. A qualified clinician should decide whether testing is appropriate and interpret results in context.

Review status: No completed medical review is recorded for this page.

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Counselor guidance included Confidential handling Kenya-wide coordination

At a glance

Plan your test

Sample
10 mL (7.5 mL minimum) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium heparin) tubes.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is required for this blood test. However, confirm with the laboratory before booking.
Test priceKSh 7,000

Payment: M-Pesa and card options can be confirmed during booking.

Insurance & government schemes

Is this test covered for you?

We help you verify whether the Gaucher Disease Quantitative Blood Test test can be claimed against your insurer, employer scheme or a Kenyan government health scheme — before you book. Coverage depends on your plan, clinical indication and your provider's rules; final approval always rests with them.

Talk to a claims advisor

Providers & schemes we can help you check

Government & public schemes

SHIF — Social Health Insurance Fund Linda Mama EduAfya NHIF (legacy cards)

Eligibility and benefits follow the current rules of the Social Health Authority (SHA) and applicable government programmes.

Private insurers & employer schemes

Jubilee Health AAR APA Britam CIC Madison Resolution Pioneer Minet Old Mutual GA Life Heritage + other licensed insurers

Names shown for identification only — listing does not imply partnership or guarantee of coverage.

Have these ready when we check

  • Insurer or scheme name & policy / member number
  • A clinician's request / prescription for the test
  • Pre-authorisation letter, if your plan requires one

Free coverage check

Ask us to verify your cover

Send your details and our claims team confirms what documents you need and whether pre-authorisation applies — usually the same working day.

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Used only to process your coverage check — see our Privacy Policy. Verification support is free and does not guarantee your provider will pay.

01

Start with fit

Is this the right test for you?

The best test starts with a clear clinical question. These are common reasons a clinician or family may consider this test.

  • ✓Individuals with symptoms suggestive of Gaucher disease (e.g., enlarged spleen or liver, bone pain, fatigue).
  • ✓Individuals with a family history of Gaucher disease.
  • ✓Individuals of Ashkenazi Jewish descent, who have a higher carrier frequency.
  • ✓Confirmation of suspected Gaucher disease based on clinical findings.
  • ✓Carrier screening in individuals with a family history.
02

In plain language

What this test helps you understand

This test helps diagnose Gaucher disease by measuring the activity of the glucocerebrosidase enzyme. It can aid in identifying individuals with the condition, especially those with symptoms or a family history.
Gaucher disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This enzyme is crucial for breaking down fatty substances called lipids. When the enzyme is deficient, these lipids accumulate in certain organs, such as the spleen, liver, and bone marrow, leading to various health problems.

The Gaucher Disease Quantitative Blood Test measures the activity level of the glucocerebrosidase enzyme in a blood sample. This test is a key diagnostic tool for identifying Gaucher disease.

Understanding the results can help healthcare providers determine the appropriate management and treatment strategies for individuals affected by this condition. Early diagnosis is important for managing the symptoms and potential complications associated with Gaucher disease.
03

Medical review status

Clinical review pending

A completed medical review is not recorded for this page. No clinician has endorsed the information shown here. Please discuss testing decisions with a qualified healthcare professional.

Meet the DNA Labs Kenya medical team →
04

A simple process

What happens next?

You do not have to navigate the test alone. We help you move from question to next step.

1

Speak with us

We check the test and answer your questions before collection.

2

Give your sample

Choose home collection or a coordinated hub visit in Kenya. We explain whether this test uses a cheek swab or blood draw.

3

Understand your report

A counselor helps you understand the result and the next steps.

05

Choose your collection

Home collection or a lab visit

We will explain the sample, preparation, and next steps before anything is collected.

Home collection

Choose a coordinated visit at home or another convenient location. Our team confirms the appointment and sample requirements in advance.

Lab or hub visit

Prefer to visit a coordinated location? We can guide you to the right hub and explain what to expect when you arrive.

Ask about locations →
PreparationNo special preparation is required for this blood test. However, confirm with the laboratory before booking.
Sample10 mL (7.5 mL minimum) whole blood collected in 3 Lavender Top (EDTA) or Green Top (Sodium heparin) tubes.
MethodologyEnzymatic assay to measure glucocerebrosidase activity.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test measures enzyme activity in the blood, which may not always perfectly correlate with disease severity or organ involvement. Other tests may be needed for a complete diagnosis. Confirm with the laboratory before booking.
06

Read your report

What common result terms mean

PositiveA finding was identified. Your clinician or counselor will explain what it means for your care.
NegativeThe specific finding tested for was not identified. It does not rule out every possible cause.
VUSA variant was found, but current evidence is not enough to classify it. Your counselor can explain follow-up.
07

Questions people ask

Frequently asked questions

Gaucher disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme glucocerebrosidase, leading to the buildup of fatty substances in certain organs.
This test helps diagnose Gaucher disease by measuring the activity of the specific enzyme involved. Early diagnosis allows for timely management and treatment.
Individuals with symptoms like an enlarged spleen or liver, bone pain, fatigue, a family history of the disease, or those of Ashkenazi Jewish descent may be advised to get tested.
A blood sample is required for this test. Specific collection tube types are needed; please refer to the specimen requirements.
Turnaround time varies. Please confirm the estimated turnaround time with the laboratory before booking.
08

Collaboration

Open for partnership with hospitals, clinics, doctors & researchers

Whether you are referring patients, building a research programme or supporting students, we work as an extension of your team — with responsive communication and clear scientific standards.

Hospitals & clinics

Referral pathways, coordinated sample logistics and shared reporting that fits your clinical workflow.

Doctors & specialists

LOINC-coded reports, ACMG-based variant classification and a direct scientific line for complex cases.

Research institutions

Sanger sequencing, NGS panels and custom assays — with project design support, batch pricing and agreed turnaround commitments.

Students & academic projects

Discounted laboratory services for college, master's and PhD research projects — including proposal guidance and cost-effective batch testing.

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09

Trust & transparency

Sources, standards & how this page is maintained

Standards & references

  • ACMG/AMP technical standards for sequence variant interpretation
  • ClinGen curation and gene–disease validity frameworks where applicable
  • LOINC-coded reporting for interoperable results
  • ISO 9001:2015 quality management; ISO 15189 accreditation in progress

Page provenance

  • Last updated: September 27, 2026
  • Medical review: not yet completed
  • Written for patients & clinicians in Kenya; reviewed periodically against current guidance

Medical disclaimer: this page is general information, not a diagnosis or personal medical advice. Testing decisions and result interpretation should be made with a qualified healthcare professional.

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