Test Price
2,800 AED✅ Home Collection Available
POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
This next-generation sequencing (NGS) test analyzes the entire coding region of the POLG gene to detect variants associated with mitochondrial DNA depletion syndrome type 4B (MTDPS4B). With 99.9% diagnostic sensitivity and a 3–4 week turnaround time, it enables precise diagnosis for patients with neurological symptoms. The test is performed in our DHA-licensed laboratory with ISO 9001:2015 certified processes.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance by DHA-licensed Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test provides comprehensive coverage of all exons and splice sites of the POLG gene. Variants are classified according to ACMG guidelines, and results are correlated with clinical phenotype. The test is indicated for patients with suspected mitochondrial DNA depletion syndrome type 4B, particularly those presenting with progressive external ophthalmoplegia, encephalopathy, or liver failure.
Test Comparison: Advanced POLG NGS vs. Broad Whole Exome Sequencing
| Feature | Our POLG NGS Test | Whole Exome Sequencing |
|---|---|---|
| Target Precision | 100% coverage of POLG exons & splice sites | ~95% coverage, may miss deep intronic variants |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Relevance | Directly diagnoses MTDPS4B, guides targeted therapy | High incidental findings, requires extensive interpretation |
| Cost-Efficiency | Focused diagnostic, no unnecessary data | Higher cost with lower actionable yield |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I emphasize that a POLG variant report must be correlated with clinical symptoms and family history. This test is a critical piece of the diagnostic puzzle, but it is not a standalone verdict. Patients and families deserve thorough genetic counselling to understand implications for treatment and future planning." — Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Clinical Advisory & Safety Protocols
Clinical Warning
Do not discontinue any prescribed medication or treatment without consulting your physician; this test does not replace ongoing medical care.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Not for minors under 16 without parental consent and mandatory genetic counselling per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Not indicated for asymptomatic individuals without a family history of mitochondrial disease or neurological decline.
- Specimen collection must be performed by licensed phlebotomist; incorrect collection may compromise results.
- Seek immediate medical attention if patient experiences: unexplained seizures, sudden loss of motor skills, severe lactic acidosis symptoms (vomiting, breathing difficulty), or stroke-like episodes.
Patient FAQ & Clinical Guidance
1. Why should I choose this specific POLG genetic test in the UAE?
Our DHA-licensed laboratory delivers 99.9% diagnostic accuracy with a 3-week turnaround, supported by ISO certified home collection. Unlike whole exome sequencing, this focused assay interprets only clinically actionable POLG variants, reducing ambiguity and ensuring direct correlation with mitochondrial DNA depletion syndrome type 4B – a condition prevalent in consanguineous populations.
2. What preparation is required before the blood sample collection?
No fasting or medication adjustments are needed; simply provide a clinical history and pedigree chart during the mandatory pre-genetic counselling. Our cold-chain team will collect a standard EDTA whole blood sample or a single drop on an FTA card. Ensure your doctor’s referral notes any neurological symptoms, as this helps our molecular pathologists interpret variants accurately in accordance with UAE healthcare regulations.
3. How do I access my results and receive clinical interpretation?
Your confidential report will be delivered via our secure online portal with a telephonic consultation from a DHA-licensed Consultant Medical Genetics. The report includes variant classification based on ACMG guidelines, risk assessment for family members, and a clear action plan. For urgent results, we offer expedited WhatsApp notification to +971545488731, ensuring compliance with UAE PDPL data protection standards.
UAE Regulatory & Data Privacy Adherence
Our laboratory strictly adheres to 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 encrypted and stored securely, with access restricted to authorized medical personnel. Patient consent is obtained prior to testing in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability. The DHA Facility License 1143 ensures regulatory oversight.
Clinical & Logistical Metadata
| Test Name | POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | E88.49, Z13.71 |
| LOINC Code | 94862-4 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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