Test Price
2,800 AED✅ Home Collection Available
ERCC6 Gene Cockayne Syndrome Type B Genetic Test in UAE | 2,800 AED | DHA Licensed & Approved
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited 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 genetic counselors.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
DHA Facility License: 1143
Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Test Overview & Methodology
The ERCC6 Gene Cockayne Syndrome Type B NGS Test identifies pathogenic variants in the ERCC6 gene, responsible for Cockayne syndrome type B—a rare autosomal recessive disorder characterized by progressive neurodegeneration, growth failure, and photosensitivity. This advanced NGS assay provides deep coverage of the ERCC6 gene including splice sites.
| Feature | Our ERCC6 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision / Coverage | 99.9% diagnostic sensitivity; deep coverage of ERCC6 exons ±10 bp splice sites | Variable coverage; risk of missing GC‑rich exon 6 of ERCC6 |
| Methodology | Next‑Generation Sequencing (NGS) with bidirectional Sanger confirmation | NGS without targeted single‑gene validation |
| Turnaround Time | 3–4 Weeks from sample receipt | 6–8 Weeks with variant classification delays |
| Genetic Counseling | Included pre‑ and post‑test by DHA‑licensed counselors | Often limited to report delivery |
Physician Insight & Clinical Safety Protocol
“As a DHA-licensed Consultant Medical Genetics, I emphasize that this targeted NGS test for ERCC6 provides definitive molecular diagnosis for Cockayne syndrome type B. However, genetic testing is a collaborative process; results must be interpreted alongside clinical assessments and family history. Our team provides comprehensive pre- and post-test counseling to support families.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Warning & Safety Directive
Do not discontinue any prescribed medication without consulting your treating physician. This test does not replace ongoing clinical management.
This test is intended for diagnostic confirmation and should not be used as a sole basis for treatment decisions. Consult your healthcare provider for personalized medical advice.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Home Collection & Test Safety):
- Patient under 6 months of age with active sepsis or hemodynamic instability – hospital‑based collection required.
- Inability to provide informed consent by parent/legal guardian (mandatory per UAE Child Protection Law).
- Recent whole blood transfusion (<2 weeks) – may interfere with germline DNA extraction.
ER Red Flags – Seek Immediate Medical Attention:
- Unexplained seizures or acute neurological regression during the waiting period.
- Severe skin blistering/burns after minimal sun exposure (photosensitivity crisis).
- Unexplained new‑onset organ failure in a suspected Cockayne syndrome child.
Patient FAQ & Clinical Guidance
1. How accurate is this in confirming Cockayne syndrome type B?
This NGS assay achieves over 99.9% diagnostic sensitivity for known pathogenic variants in the ERCC6 gene when combined with clinical findings and family history.
2. Can I use a saliva sample or a blood spot card instead of a blood draw?
Yes, we accept one drop of blood on an FTA card for DNA extraction, which is ideal for neonates and young children with difficult venous access. Saliva samples are also acceptable.
3. How long does it take to receive the results in the UAE?
Results are available within 3 to 4 weeks from sample receipt, with an integrated telephonic consultation to explain findings in plain language.
UAE Regulatory & Data Privacy Adherence
Compliance with UAE Data Protection and Health ICT Laws
All patient data handled during the testing process is fully 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.
Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory operates under DHA Facility License No. 1143 and maintains strict confidentiality and security protocols.
Clinical & Logistical Metadata
| Test Name | ERCC6 Gene Cockayne Syndrome Type B Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA), Saliva, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) with bidirectional Sanger confirmation |
| ICD-10-CM Code | G96.8 (Cockayne syndrome) |
| LOINC Code | 81304-3 (Gene mutation analysis for Cockayne syndrome) |
| DHA Facility License & Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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