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Medical information Clinical review pending

Genetic Testing

GAA Gene Pompe Disease Genetic Test

Genetic test to detect mutations in the GAA gene associated with Pompe disease, a disorder affecting muscle function. Utilizes Next-Generation Sequencing (NGS) technology for comprehensive DNA analysis.

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 FTA Card.
Results
Approximately 3 to 4 weeks. Confirm with the laboratory before booking.
Preparation
A genetic counseling session is recommended prior to testing to discuss family history and the implications of the test. A detailed clinical history of the patient is also required.
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 GAA Gene Pompe Disease 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 Pompe disease (e.g., muscle weakness, breathing difficulties).
  • ✓Family history of Pompe disease.
  • ✓Carrier screening for individuals with a family history.
  • ✓Prenatal diagnosis if a parent is a known carrier or affected.
  • ✓Confirmation of diagnosis in suspected cases.
02

In plain language

What this test helps you understand

This test helps identify individuals with mutations in the GAA gene, confirming a diagnosis of Pompe disease. It aids in understanding the genetic basis of the condition, guiding management strategies, and informing family planning.
The GAA Gene Pompe Disease NGS Genetic DNA Test is designed to identify mutations in the GAA gene, the cause of Pompe disease. This genetic disorder impacts muscle function and can lead to serious health issues if not diagnosed promptly. Using advanced Next-Generation Sequencing (NGS) technology, this test provides a detailed analysis of your DNA to detect specific genetic changes linked to Pompe disease. Early diagnosis is key to managing the condition effectively and accessing appropriate care. This test is valuable for individuals with symptoms or a family history of the 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 →
PreparationA genetic counseling session is recommended prior to testing to discuss family history and the implications of the test. A detailed clinical history of the patient is also required.
SampleBlood sample (EDTA tube), Extracted DNA, or One drop of blood on FTA Card.
MethodologyNext-Generation Sequencing (NGS) analysis of the GAA gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test detects mutations within the GAA gene. It may not detect all possible mutations. Results should 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

Pompe disease is a rare genetic disorder caused by mutations in the GAA gene. It affects muscle function, leading to progressive muscle weakness and potentially impacting the heart and respiratory system.
Testing is recommended for individuals showing symptoms like muscle weakness or breathing problems, those with a family history of the disease, or for carrier screening purposes.
The NGS technology used is highly accurate for detecting known mutations in the GAA gene. However, it's important to discuss the specific limitations and interpretation of results with your doctor.
Your results will be sent to your healthcare provider, who will discuss them with you. They will explain the findings and recommend appropriate next steps, which may include further testing or management options.
Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.
Yes, we offer home sample collection services for your convenience. Please contact us to arrange this.
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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