Test Price
2,800 AED✅ Home Collection Available
POLR3B Gene Leukodystrophy Hypomyelinating Type 8 Genetic Test in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
Advanced next‑generation sequencing (NGS) assay targeting the POLR3B gene to definitively confirm hypomyelinating leukodystrophy type 8. Delivered through an ISO‑accredited molecular diagnostics pathway with 99.9% diagnostic sensitivity, VIP mobile phlebotomy home collection, and post‑test telephonic clinical guidance by a DHA‑licensed consultant medical geneticist.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited Processing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM – 11 PM).
- ✓ Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyzes the POLR3B gene to confirm hypomyelinating leukodystrophy type 8, a rare inherited neurological disorder characterised by deficient myelin formation in the central nervous system. The assay provides full gene coverage including intronic and regulatory regions, enabling detection of single‑nucleotide variants, small insertions/deletions, and splice‑site alterations.
| Feature | Our Test – POLR3B NGS | Closest Alternative – Single‑Gene Sanger |
|---|---|---|
| Methodology | NGS (Next‑Generation Sequencing) – full gene coverage | Sanger Sequencing (limited to known variant hotspots) |
| Diagnostic Sensitivity | 99.9% (comprehensive exonic and intronic coverage) | ~90% (only targeted coding regions) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| ISO 9001:2015 Certification | Yes (Cert: INT/EGQ/2509DA/3139) | Varies by laboratory |
Physician Insight & Safety Protocols
“A positive POLR3B result provides a definitive molecular diagnosis, allowing families to end a long diagnostic odyssey. However, every genetic finding must be correlated with your clinical picture by a neurologist. Genetic counselling before and after testing is essential to ensure informed decision‑making and appropriate interpretation of variant pathogenicity.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Do not discontinue or modify prescribed medication without consulting your treating physician. Genetic test results should guide, not replace, your neurologist’s comprehensive management plan.
Patient Safety & Exclusion Criteria
- Exclusion Criteria: Inability to provide informed consent. For minors, legal guardian consent is mandatory per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Exclusion: Active febrile illness may delay home collection; reschedule when afebrile for 48 hours.
- ER Red Flags: If the patient experiences sudden vision loss, seizures, or acute motor regression, seek emergency neurological care immediately — do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the purpose of the POLR3B gene test?
This test definitively diagnoses hypomyelinating leukodystrophy type 8 by detecting disease‑causing variants in the POLR3B gene using high‑coverage NGS. It is the gold‑standard molecular confirmation for individuals with suggestive MRI findings of hypomyelination or a family history of leukodystrophy.
2. How is the sample collected and what are the pre‑test requirements?
We accept whole blood (3–5 mL in EDTA), extracted DNA (≥1 µg), or a dried blood spot on an FTA card. All collections are performed under strict cold‑chain by licensed phlebotomists via VIP mobile phlebotomy daily from 8 AM to 11 PM. Pre‑test genetic counselling is mandatory to document a pedigree of affected family members and obtain informed consent, in full compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection.
3. What do the results mean and how will I receive them?
A positive report confirms the clinical diagnosis; a negative result means no pathogenic variant was detected but does not exclude other leukodystrophies or non‑genetic aetiologies. Results are securely delivered via encrypted email, and a telephonic consultation with a DHA‑licensed consultant medical geneticist is provided to explain the findings in plain language.
4. Can this test detect carriers in my family?
Yes. Once a pathogenic variant is identified in the index case, targeted variant testing can be offered to at‑risk first‑degree relatives to determine carrier status. This information is valuable for reproductive planning and early clinical surveillance.
5. Is pre‑test genetic counselling covered in the price?
Yes. The comprehensive package includes a mandatory pre‑test genetic counselling session (in person or via telemedicine) to discuss the benefits, limitations, and implications of testing, as well as a post‑test consultation to review results and coordinate specialist referral if needed.
UAE Regulatory & Data Privacy Adherence
This genetic testing service operates under the regulatory oversight of the Dubai Health Authority (DHA Facility License Number 1143) and is fully compliant 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 at rest and in transit, access is restricted to authorised clinical personnel, and identifiable information is pseudonymised for analysis. Patient consent is obtained and documented in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring that every individual receives appropriate pre‑test counselling and understands the scope of genomic testing.
Clinical & Logistical Metadata
| Test Name | POLR3B Gene Leukodystrophy Hypomyelinating Type 8 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (≥1 µg), or FTA Card Dried Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | E75.2 |
| LOINC Code | 21643-2 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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