Test Price
2,800 AED✅ Home Collection Available
GAA Gene Genetic Test for Pompe Disease (E74.02) in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
Executive Summary
This advanced genetic test utilizes Next‑Generation Sequencing (NGS) to comprehensively analyze the GAA gene, definitively identifying pathogenic variants responsible for Pompe disease (Glycogen Storage Disease Type II). It serves as the molecular gold standard for diagnosis, carrier screening, and family risk stratification with a validated analytical sensitivity of 99.9%.
- ✅ 99.9% Diagnostic Sensitivity – ISO 9001:2015 certified NGS pipeline (Cert: INT/EGQ/2509DA/3139).
- ✅ Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- ✅ Clinical Guidance: Complimentary telephonic post-test consultation on result interpretation with a DHA-licensed specialist.
- ✅ Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This NGS‑based assay sequences the entire coding region and splice‑site junctions of the GAA gene (chromosome 17q25.3) to identify point mutations, small insertions/deletions, and larger structural variants. Bioinformatic analysis employs validated pipelines with >50x average depth of coverage to ensure robust variant calling. Results are correlated with clinical phenotype and, when indicated, complemented by enzyme activity assays on dried blood spots or muscle biopsy.
| Feature | Our Test – GAA NGS | Alternative – Enzyme Activity (DBS) |
|---|---|---|
| Method | Full gene next‑generation sequencing (LC‑MS/MS validated) | Fluorimetric enzyme assay on dried blood spot |
| Turnaround | 3–4 Weeks (comprehensive analysis) | 5–7 Days |
| Detection Scope | All mutation types – point mutations, deletions, duplications; carriership and novel variants included | Only enzyme deficiency; cannot identify carriers or exact mutation – requires NGS confirmation |
Physician Insight & Safety Protocols
“Every patient’s journey with Pompe disease is deeply personal; our integrated approach ensures that genetic insights empower you with clarity, not anxiety. This NGS test is designed to complement enzymatic diagnosis – results must always be correlated with clinical symptoms and muscle biopsy findings. Please do not interpret data in isolation and never adjust therapy without expert guidance.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice – Therapy Continuation
⚠️ Critical Medication Advisory:
Do not discontinue prescribed medication, including enzyme replacement therapy (e.g., alglucosidase alfa), without consulting your treating physician. Abrupt cessation can lead to rapid clinical deterioration. Results from this genetic test must not be used as the sole basis for any therapy modification.
Exclusion Criteria & Safety Precautions
- Exclusion: Patients without proper informed consent; minors lacking parental or guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Individuals undergoing acute infection, severe anaemia, or any contraindication to phlebotomy.
- Emergency Red Flags: Sudden onset of respiratory distress, severe generalized muscle weakness, or difficulty swallowing with aspiration risk – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What exactly does the GAA gene NGS test detect and why is it essential?
This NGS-based genetic test sequences the entire GAA gene to identify disease-causing mutations, confirming Pompe disease with 99.9% analytical sensitivity. It provides definitive molecular evidence for diagnosis, carrier screening, and family risk assessment where enzyme activity testing alone may be inconclusive.
2. How long must I wait for my Pompe disease genetic test results?
Results are typically delivered within 3 to 4 weeks due to comprehensive NGS analysis, bioinformatic variant interpretation, and stringent quality assurance protocols. This thorough process guarantees actionable insights with high confidence.
3. Do you offer home sample collection for this test across the UAE?
Yes, for this standard peripheral whole blood genetic test, our certified phlebotomy team provides VIP mobile phlebotomy and temperature-controlled cold-chain home collection services daily from 8 AM to 11 PM, ensuring sample integrity from collection to laboratory processing.
4. Will my insurance cover the cost of this genetic test?
We offer direct billing verification for most UAE insurance plans. Please contact our insurance support team via WhatsApp at +971 54 548 8731 to confirm your coverage and any pre-authorization requirements.
UAE Regulatory & Data Privacy Adherence
All genetic data generated through this test is processed in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal and genetic data with strict consent and security requirements.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating the electronic handling of health information, including telemedicine and digital diagnostic records.
DNA Labs UAE maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and adheres to DHA standards for genetic testing and laboratory practice, ensuring your data remains confidential and secure.
Clinical & Logistical Metadata
| Test Name | GAA Gene Next-Generation Sequencing for Pompe Disease |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) – EDTA tube; DNA extraction via automated magnetic bead technology |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform; targeted gene capture; bioinformatic analysis with >50x coverage |
| ICD-10-CM Code | E74.02 (Pompe disease) |
| LOINC Code | 81247-9 (GAA gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | DNA Labs UAE – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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