Test Price
2,800 AED✅ Home Collection Available
GAA Gene Pompe Disease Genetic Test in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
Why choose our GAA Pompe Disease Genetic Test?
- 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Next Generation Sequencing (NGS).
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily 8 AM–11 PM.
- Post‑test clinical guidance – Telephonic result interpretation by our consultant medical geneticist.
- Direct insurance billing verification – WhatsApp +971 54 548 8731.
Test price: 2800 AED · Turnaround time: 3–4 weeks · Sample: peripheral whole blood, FTA card, or extracted DNA.
Test Overview & Methodology
This test uses Next Generation Sequencing (NGS) to thoroughly analyse the GAA gene for pathogenic variants that cause Pompe disease (glycogen storage disease type II). The full coding region and intron‑exon boundaries are sequenced, including detection of cryptic splice‑site variants and large deletions. Results provide a molecular diagnosis, carrier status, and genotype‑phenotype correlation to guide enzyme replacement therapy (ERT) eligibility and family screening.
| Feature | Our NGS GAA Test | Enzyme Activity Assay (Alternative) |
|---|---|---|
| Methodology | Next Generation Sequencing – full gene coverage | Fluorometric enzyme activity in blood/fibroblasts |
| Turnaround Time | 3–4 weeks | 2–3 weeks |
| Sensitivity | >99% for known pathogenic variants, including cryptic splice sites | ~95% for infantile‑onset; pseudodeficiency may confound results |
| Result Type | DNA‑based confirmation, carrier status, and genotype‑phenotype correlation | Biochemical activity only; genetic confirmation often required |
| Clinical Utility | Directs eligibility for ERT and family screening | Preliminary screen; requires genetic follow‑up |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I see families grappling with the uncertainty of a rare disease like Pompe. This comprehensive NGS test deciphers the entire GAA gene, providing a clear molecular answer that directly informs disease‑modifying therapy. However, genetic results must always be interpreted alongside clinical symptoms, enzyme activity, and family history.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics · DHA Registration ID: 9294403
⚠️ Advisory – Medication & Treatment Continuity
Genetic testing is a long‑term diagnostic tool. Do not discontinue any prescribed enzyme replacement therapy (ERT) or supportive medications without consulting your treating physician. The test result does not replace acute medical care.
🚨 Exclusion Criteria & Emergency Red Flags
- Unsuitable sample: haemolysed blood, insufficient DNA on FTA card, or degraded extracted DNA.
- This test is not for emergency diagnosis. If the patient experiences rapidly progressive muscle weakness, respiratory distress, or acute cardiac failure, proceed to the nearest emergency department immediately.
- For patients under 18 years, genetic counselling and parental consent are mandatory in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our team provides a certified counselling session prior to sampling.
Patient FAQ & Clinical Guidance
1. What is the purpose of the GAA Pompe disease genetic test?
The test uses Next Generation Sequencing to analyse your GAA gene and confirm a clinical diagnosis of Pompe disease. It detects both known and novel pathogenic variants, enabling precise eligibility assessment for enzyme replacement therapy (ERT) and family risk evaluation.
2. How is the sample collected?
A certified phlebotomist collects a peripheral whole blood sample at your home via VIP mobile phlebotomy (8 AM–11 PM). Alternatively, a single drop on an FTA card or previously extracted DNA is accepted. The sample is transported under strict temperature‑controlled cold‑chain conditions to our ISO‑accredited genomic laboratory.
3. How long do results take and what do they mean?
Results are delivered within 3–4 weeks, with a comprehensive report identifying any GAA mutations and their clinical relevance. A positive result indicates a molecular diagnosis of Pompe disease, guiding personalised therapy; a negative result should be correlated with enzyme activity assays and specialist evaluation.
4. Is genetic counselling available before testing?
Yes. For all patients, especially minors, we provide a certified genetic counselling session prior to sampling to discuss implications, risks, and benefits. This complies with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
5. Can this test determine if I am a carrier of Pompe disease?
Absolutely. The NGS analysis identifies carrier status for autosomal recessive Pompe disease. A single pathogenic GAA variant confirms carrier status, which is valuable for family planning and cascade screening.
UAE Regulatory & Data Privacy Adherence
✅ Compliant with UAE Data Protection & Healthcare Regulations
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – all genetic data handled encrypted and anonymised.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – secure electronic health records and telemedicine guidance.
- DHA Licensing Standards – Facility No. 1143, Dubai Healthcare City.
- ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) – quality management system.
Clinical & Logistical Metadata
| Test Name | GAA Gene Pompe Disease Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood, FTA card, or extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) – full gene coverage |
| ICD-10-CM Code | E74.02 (Glycogen storage disease type II – Pompe disease) |
| LOINC Code | 78416-5 (GAA gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE · Corporate Lab: DNA Labs UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians