Test Price
2,800 AED✅ Home Collection Available
GAA Gene Glycogen Storage Disease Type II (Pompe Disease) Genetic Test in UAE | 2,800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Home Collection with hospital-grade cold‑chain logistics, VIP phlebotomy, and zero‑delay sample transport.
- Post‑Test Clinical Guidance — complimentary tele‑consultation to interpret results and plan next steps.
- Direct Billing Verification via WhatsApp +971 54 548 8731 — instant insurance eligibility confirmation.
Test Overview & Methodology
This next‑generation sequencing test analyzes the entire coding region of the GAA gene to detect pathogenic variants responsible for Glycogen Storage Disease Type II (Pompe disease). By delivering a definitive molecular diagnosis, it enables early enzyme replacement therapy planning, family screening, and reproductive counselling with absolute analytical accuracy.
| Feature | Our GAA NGS Test | Standard Biochemical Assay |
|---|---|---|
| Precision | 99.9% sensitivity – full gene sequencing | ~90% – enzyme activity only, may miss late‑onset |
| Methodology | NGS (Next‑Generation Sequencing) | Fluorometric enzyme assay |
| Turnaround Time | 3 – 4 Weeks | 1 – 2 Weeks |
| Carrier & Prenatal Utility | Yes – definitive variant identification | Limited – cannot identify carriers reliably |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics (DHA Registration ID: 9294403)
“A positive GAA variant report establishes a definitive molecular diagnosis, yet it must always be correlated with clinical presentation and biochemical markers. Isolated genetic results should never guide therapeutic decisions; integration with a metabolic specialist‘s assessment is essential. Our laboratory offers a complimentary post‑test consultation to support you and your physician in developing a personalised management strategy.”
⚠ Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor. Enzyme replacement therapies, cardiac drugs, or respiratory support regimens must be managed by your treating physician independently of genetic findings. Always seek professional medical advice before altering any treatment plan.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or acute infection – reschedule collection until recovery.
- Inability to provide a blood sample (e.g., severe anaemia without physician clearance).
- Home collection is not available for patients currently hospitalised in intensive care.
- Emergency red flags: severe muscle weakness with breathing difficulty, cyanosis, or loss of consciousness – proceed directly to the nearest emergency department; do not wait for test results.
Pre‑test requirement: A detailed clinical history and genetic counselling session to construct a pedigree chart of affected family members is mandatory before sample collection.
Patient FAQ & Clinical Guidance
1. What does the GAA NGS test reveal that routine enzyme tests miss?
This DNA analysis identifies the exact genetic mutation, enabling carrier detection, prenatal diagnosis, and distinction between infantile‑onset and late‑onset Pompe disease — even when enzyme levels are borderline. Enzyme assays cannot reliably detect carriers or differentiate between disease subtypes.
2. How long does it take to receive results, and how are they delivered?
Results are ready in 3 to 4 weeks and are shared through a secure, UAE PDPL‑compliant online portal with an optional tele‑consultation to interpret findings. Detailed reports include variant classification, clinical recommendations, and references to published literature.
3. Is home sample collection available for children, and what precautions are taken?
Yes, our paediatric‑trained phlebotomists perform home collection between 8 AM and 11 PM daily, using cold‑chain transport that exceeds ISO 9001:2015 standards to preserve DNA integrity. All staff follow strict infection control protocols.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Compliance Framework
DNA Labs UAE operates under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA Facility License Number: 1143.
Clinical & Logistical Metadata
| Test Name | GAA Gene Glycogen Storage Disease Type II (Pompe Disease) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection. Available daily from 8 AM to 11 PM. |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full coding region analysis |
| ICD-10-CM Code | E74.02, E74.0 |
| LOINC Code | 81258-5 |
| DHA Facility License & Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians