Test Price
2,800 AED✅ Home Collection Available
ERCC2 Gene Xeroderma Pigmentosum, Group D Genetic Test in UAE with NGS Technology
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity achieved through ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited NGS processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection. Service available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post-test clinical guidance with a DHA-licensed specialist to interpret results and recommend next steps.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The ERCC2 gene test employs Next-Generation Sequencing (NGS) to screen for pathogenic variants causing Xeroderma pigmentosum group D, a rare inherited disorder marked by extreme ultraviolet sensitivity and a significantly increased risk of skin cancer. This analysis detects mutations in the ERCC2 gene responsible for a severe subset of Xeroderma pigmentosum, enabling early dermatological, ophthalmological, and neurological monitoring. Prior to sample collection, a mandatory genetic counseling session is conducted to draw a detailed pedigree chart of family members affected by ERCC2-related conditions. No fasting is required; patients may continue all prescribed medications unless otherwise instructed by their physician. Acceptable specimens include whole blood (2 mL EDTA tube), extracted DNA (minimum 1 µg), or a single drop of blood on an FTA card.
| Feature | Our Test (NGS Panel) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity, full coding region ± 20 bp of splice sites, CNV detection | ~95% sensitivity, limited to small insertions/deletions/SNVs, misses large rearrangements |
| Methodology | Next-Generation Sequencing (NGS) with bioinformatic validation per ACMG guidelines | Sanger sequencing of individual exons |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks (may require follow-up MLPA for deletions) |
Physician Insight & Safety Protocols
“Identifying a pathogenic variant in the ERCC2 gene confirms the clinical diagnosis of Xeroderma pigmentosum group D and provides a molecular foundation for instituting aggressive photoprotection, regular dermatologic surveillance, and early intervention for cutaneous malignancies. However, a negative sequencing result does not exclude the possibility of variant types not captured by the current assay or other XP complementation groups. Integration of the genetic finding with the patient’s full dermatological, ophthalmological, and neurological clinical picture remains the cornerstone of responsible medical management.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Do not discontinue prescribed photoprotective measures, sun avoidance regimens, or any dermatological medications without consulting your physician.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide a blood or DNA sample; lack of clinical indication or family history of Xeroderma pigmentosum; patient unable to give informed consent (minors require legal guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags: Sudden onset of severe blistering sunburn after minimal UV exposure; rapid appearance of multiple skin lesions or persistent eye irritation; unexplained neurological deterioration such as developmental regression, ataxia, or progressive hearing loss – immediate dermatology and neurology consultation is required.
Patient FAQ & Clinical Guidance
1. What is the ERCC2 gene test and what is its purpose?
This test sequences the entire ERCC2 gene to identify mutations responsible for Xeroderma pigmentosum group D, enabling early, personalized cancer surveillance and strict photoprotection measures.
2. How is the sample collected and what is the turnaround time?
A certified phlebotomist collects blood (2 mL EDTA) or a DNA specimen via FTA card finger prick at your home under cold-chain protocol; results are reported within 3 to 4 weeks.
3. Does the test include pre- and post-test genetic counseling?
Yes, a DHA-licensed genetic counselor conducts a pre-test pedigree analysis session and a post-test telephonic session to explain results and coordinate clinical follow-up.
UAE Regulatory & Data Privacy Adherence
All genetic data is handled in strict compliance 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 testing safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified (Certificate INT/EGQ/2509DA/3139) and fully licensed by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | ERCC2 Gene Xeroderma Pigmentosum, Group D Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (2 mL EDTA), extracted DNA (min 1 µg), or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) with bioinformatic validation per ACMG guidelines |
| ICD-10-CM Code | Q82.1 |
| LOINC Code | 92822-6 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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