Skip to main content
Medical information Clinical review pending

Genetic Testing

GAA Gene Glycogen Storage Disease Type 2 Genetic Test

Genetic test using Next Generation Sequencing (NGS) to identify mutations in the GAA gene associated with Glycogen Storage Disease Type 2 (Pompe disease). Helps diagnose individuals with symptoms or a family history of the condition.

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.

Ask a question
Counselor guidance included Confidential handling Kenya-wide coordination

At a glance

Plan your test

Sample
Blood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is typically required for this blood test. However, confirm with the laboratory for any specific instructions.
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 Glycogen Storage Disease Type 2 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.

+254

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 unexplained muscle weakness.
  • ✓Patients experiencing respiratory difficulties.
  • ✓Individuals with a family history of Glycogen Storage Disease Type 2.
  • ✓Patients with clinical signs suggestive of Pompe disease.
  • ✓Newborn screening follow-up for suspected cases.
02

In plain language

What this test helps you understand

This test identifies mutations in the GAA gene, which are the cause of Glycogen Storage Disease Type 2 (Pompe disease). It aids in the diagnosis of individuals suspected of having the condition based on clinical symptoms or family history.
The GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test is a diagnostic tool used to identify mutations in the GAA gene, which cause Pompe disease, a serious metabolic disorder. This test uses advanced Next Generation Sequencing (NGS) technology for a comprehensive analysis of genetic variations linked to this condition. Understanding your genetic risk for metabolic disorders like Pompe disease is important for early intervention and management. This test can help diagnose patients showing symptoms or those with a family history of Glycogen Storage Disease Type 2, enabling timely treatment and potentially improving quality of life. The test measures the presence of mutations in the GAA gene by analyzing DNA. Healthcare providers use this information to assess an individual's risk of developing Pompe disease. Genetic counseling is recommended to discuss results and their implications.
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 typically required for this blood test. However, confirm with the laboratory for any specific instructions.
SampleBlood sample (EDTA tube). Confirm specific requirements with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) of the GAA gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes specific regions of the GAA gene. It may not detect all possible mutations. A negative result does not completely rule out Glycogen Storage Disease Type 2. Results should be interpreted in conjunction with clinical findings and family history.
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

Glycogen Storage Disease Type 2, also known as Pompe disease, is a rare inherited metabolic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to the buildup of glycogen in the body's cells, particularly muscles.
Testing is recommended for individuals with symptoms suggestive of Pompe disease (like muscle weakness or breathing problems) or those with a family history of the condition.
The test uses advanced NGS technology for high accuracy in detecting known mutations within the GAA gene. However, it may not detect all possible genetic changes.
Your doctor will discuss the results with you. Genetic counseling is often recommended to help understand the implications of the findings for you and your family.
Insurance coverage varies. Please check with your insurance provider regarding coverage for genetic testing.
A blood sample is required for this test. We offer sample collection at our branches or through home visits.
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.

Keep exploring

Related tests

View all tests →
Chat on WhatsApp