Test Price
2,800 AED✅ Home Collection Available
POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant (Genetic Test) in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity – ISO 15189/ISO 9001:2015 accredited NGS laboratory processing with full POLG gene coverage including deep intronic regions and copy number variations.
- VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – DHA‑licensed phlebotomist visits your residence across all emirates; sample integrity guaranteed under ISO‑certified cold‑chain logistics.
- Telephonic Post‑Test Clinical Guidance – Expert interpretation of results by a Consultant Medical Geneticist and genetic counsellor, correlated with your neurological history and family pedigree.
- Direct Insurance Billing Verification – WhatsApp +971 54 548 8731 for instant pre‑approval and coverage check.
Test Overview & Methodology
The POLG gene test uses next‑generation sequencing (NGS) to detect autosomal dominant pathogenic variants causing progressive external ophthalmoplegia with mitochondrial deletions type 1 (PEOA1) – a multi‑system mitochondrial disorder. This comprehensive assay provides a definitive molecular diagnosis, guiding targeted surveillance, family counselling, and reproductive options. The analysis covers all 23 exons, conserved intronic boundaries, and mitochondrial DNA deletion hotspots.
| Feature | Our Test (NGS – POLG Full Gene) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Analytical Sensitivity | 99.9% (SNVs, indels, CNVs) | ~95% (misses large deletions) |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks |
| Molecular Coverage | All 23 exons + intron boundaries + mtDNA deletions | Selected exons only |
Physician Insight & Safety Protocols
"A positive POLG variant must be interpreted within the full context of the patient's neuromuscular examination, mitochondrial biomarker profile, and three‑generation family history. This genetic result refines the diagnostic trajectory and enables cascade screening for at‑risk relatives, but it never replaces clinical judgement. Our role is to bridge molecular evidence with personalised patient care."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Continuity
Continue all prescribed therapies — including antiepileptics, cardiac medications, and mitochondrial co‑factors — unless explicitly adjusted by your treating physician after genetic confirmation. Abrupt discontinuation may precipitate clinical deterioration.
Safety Exclusion Criteria & Clinical Red Flags
- Exclusion: Acute febrile illness, recent blood transfusion (<4 weeks), or active infection that may compromise DNA integrity.
- Exclusion: Degraded or insufficient DNA quantity on initial specimen; recollection will be requested at no extra charge.
- Emergency Red Flags: Sudden severe ptosis, new‑onset diplopia, progressive dysphagia, cardiac conduction abnormalities (syncope, palpitations), or rapid muscle weakness – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What does the POLG gene test detect?
This test identifies pathogenic DNA variants in the POLG gene responsible for autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions type 1. It screens all coding regions, adjacent splice sites, and copy number variations, delivering a definitive molecular diagnosis that distinguishes PEOA1 from other mitochondrial syndromes.
2. How is the sample collected?
A DHA‑licensed phlebotomist visits your home to collect a standard peripheral blood sample, or you may provide a dried blood spot on a DNA FTA card. The specimen is transported under ISO‑certified temperature‑controlled cold chain to our genetics laboratory. Results are reported within 3 to 4 weeks.
3. What are the implications of a positive result?
A positive result confirms the clinical diagnosis, enables cascade testing in at‑risk relatives, and guides tailored mitochondrial surveillance protocols. Genetic counselling is mandatory before and after testing to discuss the 50% autosomal dominant inheritance probability for offspring and to coordinate multidisciplinary management.
UAE Regulatory & Data Privacy Adherence
This service operates in full compliance 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 genetic data is processed exclusively within UAE‑based secure servers using end‑to‑end encryption. Clinical safety and patient consent procedures follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Accreditations: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139); ISO 15189 accredited molecular diagnostics laboratory.
Clinical & Logistical Metadata
| Test Name | POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant (Genetic Test) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21 – 28 Business Days (3 – 4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood, DNA FTA Card, or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coverage including SNVs, Indels, and CNVs |
| ICD-10-CM Code | H49.4 |
| LOINC Code | 82989-5 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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