Test Price
2,800 AEDโ Home Collection Available
POLG2 Gene Progressive External Ophthalmoplegia Type 4 DNA Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
Precision NGS analysis of the entire POLG2 gene achieving 99.9% diagnostic sensitivity for autosomal dominant progressive external ophthalmoplegia type 4. Results are delivered with ISO 9001:2015 accredited processing, VIP mobile phlebotomy home collection, and telephonic post-test clinical guidance from a DHA-licensed consultant medical geneticist.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Interpretation by DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This advanced genetic test screens the entire POLG2 gene for pathogenic variants causing autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions type 4, a neuromuscular disorder characterized by progressive weakness of the eye muscles, ptosis, and mitochondrial dysfunction. Using Next-Generation Sequencing (NGS) with optional transcriptome/RNA sequencing, results deliver actionable clinical intelligence within 21โ28 days.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision / Sensitivity | 99.9% coverage of all POLG2 exons & intron-exon boundaries | Limited panel, may miss deep intronic variants |
| Methodology | NGS + Transcriptome/RNA Sequencing (AI-validated) | Sanger sequencing only (targeted, lower throughput) |
| Turnaround Time | 21โ28 days (home collection included) | 4โ6 weeks (hospital-based draw only) |
Physician Insight & Safety Protocols
โThis test provides a definitive genetic diagnosis for autosomal dominant progressive external ophthalmoplegia type 4, but it must always be correlated with clinical examination, family history, and muscle biopsy findings. A negative result does not exclude all mitochondrial disorders; please consider a targeted multigene panel if clinical suspicion remains high.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
Do not discontinue prescribed medication or adjust therapy based solely on this genetic result without consulting your treating physician. Clinical correlation with neurological examination remains essential.
Safety & Exclusion Criteria
- Exclusion Criteria: Active infection at venipuncture site, severe bleeding disorder (INR >3.0), inability to provide informed consent, or inability to lie still for 15-minute phlebotomy.
- Emergency Red Flags (Seek Immediate Medical Attention): Sudden onset double vision with dysphagia, severe ptosis with respiratory difficulty, or acute visual loss with headache and scalp tenderness (giant cell arteritis mimics).
- For Minors: Genetic testing in minors strictly follows UAE regulatory guidelines; a DHA-approved genetic counsellor must certify medical necessity.
- Data Privacy: All genetic data is protected under 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.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of the POLG2 gene test for progressive external ophthalmoplegia type 4?
This NGS test achieves 99.9% diagnostic sensitivity for all clinically relevant POLG2 variants, providing a definitive diagnosis when clinical criteria align. The methodology covers single nucleotide variants, small indels, and copy number changes across the gene. All pathogenic findings are classified according to current ACMG guidelines, and results include a detailed clinical interpretation from our DHA-certified consultant medical geneticist.
2. What sample types are accepted and how is collection performed?
We accept whole blood, extracted DNA, or a single drop of blood on an FTA card. Our DHA-licensed phlebotomists arrive at your location between 8 AM and 11 PM with ISO-certified cold-chain transport equipment. For infants or difficult veins, the FTA card method offers a minimally invasive alternative. All samples are processed within 24 hours of collection to preserve DNA integrity.
3. What is the turnaround time and how will I receive my results?
Results are delivered within 21โ28 working days via a secure encrypted PDF report with a telephonic consultation included. You receive an email notification when your report is ready. A follow-up call from our clinical genetics team explains the findings, variant classification, and recommended next steps, such as referral to ophthalmology or genetic counselling โ all fully compliant with UAE PDPL data privacy standards.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Accreditation
This laboratory operates under DHA Facility License No. 1143. All genetic tests comply 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. Clinical safety and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 Certified for quality management. For billing, home collection, or medical enquiries, contact us via WhatsApp at +971 54 548 8731. Hours: 8 AM to 11 PM daily.
Clinical & Logistical Metadata
| Test Name | POLG2 Gene Progressive External Ophthalmoplegia Type 4 DNA Test |
| Price (AED) | 2800 |
| Turnaround Time | 21โ28 working days |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card (standard peripheral blood specimen) |
| Methodology Used | Next-Generation Sequencing (NGS) + optional Transcriptome/RNA Sequencing |
| ICD-10-CM Code | H49.4 |
| LOINC Code | 21665-7 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians