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Genetic Testing

GBA Gene Gaucher Disease Type 1 Genetic Test

Genetic test using Next Generation Sequencing (NGS) to detect mutations in the GBA gene associated with Gaucher disease type 1. Helps in early diagnosis and management.

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
Blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Results
Approximately 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
A clinical history of the patient is recommended. A genetic counseling session to draw a pedigree chart of family members affected by Gaucher disease type 1 is also recommended prior to testing. Confirm specific requirements with the laboratory before booking.
Test priceKSh 40,000

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 GBA Gene Gaucher Disease Type 1 Genetic 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., fatigue, bone pain, enlarged spleen or liver).
  • ✓Individuals with a family history of Gaucher disease.
  • ✓Individuals of Ashkenazi Jewish ancestry.
  • ✓Carrier screening for family planning purposes.
  • ✓Confirmation of diagnosis in suspected cases.
02

In plain language

What this test helps you understand

This test identifies mutations in the GBA gene, which are the cause of Gaucher disease type 1. Early detection allows for timely management and potential treatment options, improving patient outcomes and quality of life.
The GBA Gene Gaucher Disease Type 1 NGS Genetic DNA Test is a diagnostic tool using Next Generation Sequencing (NGS) technology. It identifies mutations in the GBA gene, which cause Gaucher disease type 1, a metabolic disorder. This test is important for individuals potentially at risk, enabling early diagnosis and management.

This genetic test specifically looks for mutations in the GBA gene. Identifying these mutations helps healthcare providers assess the risk of developing Gaucher disease type 1 and plan appropriate care.

Individuals with a family history of Gaucher disease, or those experiencing symptoms like fatigue, bone pain, or enlarged organs, may benefit from this test. People of Ashkenazi Jewish ancestry have a higher prevalence of GBA mutations and might consider screening.

Benefits of this test include early detection for timely intervention, informed family planning with genetic counseling, personalized treatment based on genetic findings, and peace of mind regarding genetic health.

Results will indicate the presence of GBA gene mutations. A genetic counselor can help interpret the results and discuss their implications for your health and family.

We have branches across Kenya and offer a home sample collection service for convenience. Contact us to book your test.
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 →
PreparationA clinical history of the patient is recommended. A genetic counseling session to draw a pedigree chart of family members affected by Gaucher disease type 1 is also recommended prior to testing. Confirm specific requirements with the laboratory before booking.
SampleBlood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card.
MethodologyNext Generation Sequencing (NGS) of the GBA gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test specifically targets mutations in the GBA gene associated with Gaucher disease type 1. It does not detect mutations in other genes that may cause similar symptoms. Results must be interpreted in the context of clinical findings and family history. 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 type 1 is a genetic metabolic disorder caused by mutations in the GBA gene. It affects the body's ability to break down certain fatty substances, leading to various symptoms.
Individuals with a family history of the disease and those of Ashkenazi Jewish ancestry have a higher risk. Symptoms like fatigue, bone pain, or enlarged organs may also indicate a need for testing.
The test involves analyzing a sample of your blood or DNA to look for specific mutations in the GBA gene. We offer home sample collection for convenience.
A healthcare professional or genetic counselor will interpret the results. They will explain what the findings mean for your health and discuss any potential implications for your family.
Yes, genetic counseling is recommended before and after testing to understand the test, interpret results, and discuss family implications.
Results are typically available within 3 to 4 weeks. Confirm 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.

Explore partnerships
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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