Test Price
2,800 AED✅ Home Collection Available
POLR3A Gene Leukodystrophy Hypomyelinating Type 7 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary: This advanced genetic test delivers 99.9% diagnostic sensitivity using ISO 9001:2015 accredited next-generation sequencing (NGS) and Sanger confirmation. The test is clinically supervised by a DHA-licensed Consultant Medical Geneticist and includes mandatory pre-test genetic counselling. Logistics include VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Post-test telephonic clinical guidance is provided by the attending geneticist. Direct billing verification is available via WhatsApp +971 54 548 8731.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Cold-Chain Home Collection (8 AM – 11 PM daily).
- Clinical Guidance: Telephonic post-test interpretation by DHA-registered Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The POLR3A gene test identifies pathogenic variants associated with hypomyelinating leukodystrophy type 7, a severe neurological disorder characterized by delayed myelination, motor regression, and cognitive decline. This NGS-based assay screens the entire coding region, splice sites, and selected regulatory regions with >100x read depth, enabling early diagnosis and informed family planning. All positive findings are confirmed by Sanger sequencing.
Sample Types: Whole Blood (EDTA), Extracted DNA, Dried Blood Spot on FTA Card. Turnaround Time: 3–4 Weeks.
| Feature | Our Test (POLR3A NGS) | Closest Alternative |
|---|---|---|
| Methodology | Full Gene Next Generation Sequencing + Sanger Confirmation | Single-site PCR / Sanger only (limited coverage) |
| Diagnostic Yield | Covers all exons, splice sites, and regulatory regions – >99% sensitivity | Partial gene screening; misses deep intronic or novel variants |
| Turnaround Time | 3–4 weeks with rapid pre-authorization | 6–8 weeks (fragmented workflows) |
| Regulatory Compliance | Full UAE DHA, ISO 9001:2015, PDPL, Federal Law No. 2 of 2019 | May lack local genetic counselling mandate |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403): "The POLR3A test is a cornerstone for confirming hypomyelinating leukodystrophy type 7, particularly in children presenting with spasticity, ataxia, and MRI evidence of hypomyelination. A positive result must be correlated with clinical and neuroimaging findings; genetic counselling is essential both before and after testing. We recommend this test only after detailed neurological evaluation and pedigree analysis."
⚠️ Important Advisory
Do not discontinue any prescribed medication without consulting your physician. This genetic test does not replace ongoing neurological management.
Safety Exclusion Criteria & ER Red Flags
- Exclusion: Patients who have not undergone a genetic counselling session with a DHA-licensed counsellor (mandatory per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Exclusion: Minors without legal guardian consent in line with UAE genetic testing regulations.
- ER Red Flag: If you or your child experiences sudden loss of consciousness, uncontrolled seizures, or respiratory distress, seek emergency care immediately before scheduling this test.
- ER Red Flag: Acute neurological deterioration (severe headache, vision changes, paralysis) requires emergency evaluation, not elective genetic testing.
Patient FAQ & Clinical Guidance
1. How accurate is the POLR3A Genetic Test for diagnosing leukodystrophy?
This test achieves over 99.9% analytical sensitivity for single nucleotide variants and small indels within the POLR3A gene, providing a definitive molecular diagnosis when combined with clinical correlation and MRI findings.
2. What preparation is required before sample collection?
A mandatory genetic counselling session is needed to draw a detailed family pedigree, review neurological history, and obtain informed consent in compliance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability. No fasting or medication changes are required.
3. Can the test be performed on children in the UAE?
Yes, provided a legal guardian gives informed consent and the child has undergone a complete genetic counselling session as required by UAE regulations. The sample can be collected at home via our mobile phlebotomy service.
4. How is the sample transported and processed?
Blood samples are collected in EDTA tubes by a trained phlebotomist and transported via ISO-certified cold chain to our laboratory. DNA extraction and NGS analysis are performed, and results are typically available within 3–4 weeks.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Compliance: This test fully 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 genetic data is encrypted and accessible only to authorized clinicians. Our laboratory holds DHA accreditation and ISO 9001:2015 certification (INT/EGQ/2509DA/3139). Medical liability is governed by Federal Decree-Law No. 4 of 2016.
Patients have the right to access, correct, and request deletion of their data in accordance with PDPL. For any privacy concerns, contact our Data Protection Officer at +971 4 123 4567.
Clinical & Logistical Metadata
| Test Name | POLR3A Gene Sequencing for Hypomyelinating Leukodystrophy Type 7 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot on FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Confirmation; >100x read depth |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 94228-4 |
| DHA Facility License & Laboratory Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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