Test Price
700 AED✅ Home Collection Available
Pompe Disease Quantitative Blood Test in UAE | 700 AED | DNA Labs UAE
Executive Summary & Core Metrics
Diagnostic sensitivity 99.9% via an ISO 9001:2015 certified laboratory. VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Post-result telephone consultation with a qualified general practitioner. Direct insurance coverage verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The Pompe Disease Quantitative Blood Test measures acid α‑glucosidase (GAA) enzyme activity to definitively diagnose Pompe disease (Glycogen Storage Disease Type II). Offered in the UAE at 700 AED by DNA Labs UAE, this assay achieves 99.9% diagnostic sensitivity using validated fluorometric / LC‑MS/MS methodology, guiding early enzyme replacement therapy and long‑term care.
| Feature | Our Test – UAE Premium | Closest Alternative (Dried Blood Spot / Sequencing) |
|---|---|---|
| Methodology | Quantitative fluorometric/LC‑MS/MS‑validated enzyme assay | Dried blood spot enzyme activity or GAA gene sequencing |
| Precision | 99.9% sensitivity; eliminates pseudodeficiency artefacts | May require second‑tier testing for borderline levels |
| Turnaround Time | 4 working days | 5–21 days |
| Sample Collection | Hospital‑grade VIP mobile phlebotomy daily 8 AM‑11 PM; ISO cold‑chain | Clinic visit required |
| Price | 700 AED | Often >900 AED |
Physician Insight & Safety Protocols
Dr. Ajay Singh, General Practitioner (DHA License: 36234132), notes: “Pompe disease can mimic other myopathies; therefore, the enzyme result must always be correlated with clinical symptoms, cardiac evaluation, and genetic studies. A normal enzyme level does not exclude late‑onset forms if sample quality is suboptimal. Early referral to a metabolic specialist is recommended for any equivocal result.”
Safety Advisory & Medication Guidance
⚠ Do not discontinue prescribed medication without consulting your doctor.
If you are on enzyme replacement therapy (ERT) or any other medication, continue as directed. Sudden cessation can worsen clinical outcomes. Always inform your phlebotomist about current medications before sample collection.
Exclusion Criteria & Emergency Flags
- Exclusion: haematocrit <20% or >55%; specimen with severe haemolysis or lipaemia.
- Exclusion: blood collected in tube other than lavender‑top (EDTA) or green‑top (sodium heparin).
- Exclusion: specimen not shipped refrigerated within 48 hours of collection.
- Emergency Red Flag: infant presents with hypotonia, feeding difficulty, respiratory distress – proceed to paediatric emergency department immediately.
- Emergency Red Flag: sudden cardiac decompensation or cyanosis requires urgent medical attention.
Patient FAQ & Clinical Guidance
1. What exactly is the Pompe Disease Quantitative Blood Test, and when is it ordered?
This assay quantifies acid α‑glucosidase (GAA) deficiency in whole blood, confirming Pompe disease in infants, children, or adults presenting with unexplained muscle weakness, cardiomyopathy, or respiratory insufficiency. It is the recommended first‑line biochemical test when Pompe disease is suspected.
2. How accurate is this enzyme assay for diagnosing Pompe disease?
With 99.9% diagnostic sensitivity and exclusion of pseudodeficiency, the fluorometric method provides the gold‑standard biochemical confirmation, minimising equivocal results and unnecessary genetic work‑up. The assay is validated to detect both infantile and late‑onset forms.
3. What do abnormally low GAA results mean, and what next steps should I expect?
Low or absent GAA activity strongly suggests Pompe disease; your clinician will correlate with genetic analysis and cardiac/respiratory assessments to stage the condition and initiate enzyme replacement therapy. A confirmatory genetic test (GAA sequencing) may be recommended to guide long‑term management.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and complies with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All clinical testing safety and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Your health data is encrypted, processed within the UAE, and never shared without explicit consent.
Clinical & Logistical Metadata
| Test Name | Pompe Disease Quantitative Blood Test |
| Price (AED) | 700 AED |
| Turnaround Time | 4 working days |
| Sample Type / Matrix | Whole blood (EDTA or lithium heparin); VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM |
| Methodology Used | Quantitative fluorometric/LC‑MS/MS‑validated enzyme assay |
| ICD-10-CM Code | E74.02 |
| LOINC Code | 24617-9 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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