Test Price
2,800 AED✅ Home Collection Available
ERCC6 Gene Genetic Test for De Sanctis‑Cacchione Syndrome in UAE | AED 2800 | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑accredited 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 in result interpretation by DHA‑licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing test comprehensively analyses the entire coding region of the ERCC6 gene, definitively diagnosing De Sanctis‑Cacchione syndrome (a severe neurological variant of xeroderma pigmentosum / Cockayne syndrome type B). It provides the molecular confirmation required for early clinical intervention and life‑long dermatological & oncological surveillance, delivered in compliance with UAE DHA regulations.
| Feature | Our Test – NGS Full Gene Sequencing | Closest Alternative – Single‑Exon Sanger |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing), full gene coverage including deep intronic boundary regions | Sanger sequencing of individual exons, may miss structural variants |
| Turnaround Time | 3 to 4 Weeks | 6‑8 Weeks |
| Diagnostic Yield | >95% for coding pathogenic variants | ~70%, may require iterative rounds |
| Cost (AED) | 2800 | Often 3,500+ |
Physician Insight & Safety Protocols
"As a DHA‑licensed Consultant Medical Genetics, I confirm that this NGS test provides definitive molecular evidence for De Sanctis‑Cacchione syndrome. However, clinical correlation with a multidisciplinary team—including paediatricians, dermatologists, and neurologists—is essential. Early genetic confirmation enables tailored photoprotection and cancer surveillance, significantly improving long‑term outcomes."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic results may inform future therapy but do not override current medical management.
Safety Exclusion & Emergency Guidance
- Exclusion Criteria: Inability to provide informed consent for minors (requires legal guardian per UAE Federal Decree‑Law No. 4 of 2016); inadequate or haemolysed sample; known acute intercurrent illness that may delay sample collection.
- ER Red Flags: If the individual develops sudden neurological deterioration, uncontrollable seizures, or severe bullous sunburn, seek emergency medical attention immediately – do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. How does the ERCC6 NGS test confirm De Sanctis‑Cacchione syndrome, and when should I order it?
This DNA test identifies pathogenic single‑nucleotide variants, small insertions/deletions, and copy‑number changes across the entire ERCC6 gene with near‑complete diagnostic accuracy, confirming the clinical suspicion of Cockayne syndrome type B with xeroderma pigmentosum features. Order it as first‑tier confirmation when a child presents with photosensitivity, neurodevelopmental delay, and characteristic facies.
2. Will my health insurance cover this genetic test in the UAE, and how do I verify?
We provide direct billing verification through our insurance team; simply send your Emirates ID and insurance card via WhatsApp to +971 54 548 8731, and you will receive a pre‑authorisation confirmation within 2 business hours, fully compliant with UAE PDPL data privacy regulations.
3. What makes your laboratory’s methodology superior to older sequencing techniques for this condition?
Our ISO 9001:2015 certified NGS workflow uniformly amplifies all exons and adjacent splice sites of ERCC6 with 500× average depth, eliminating the false‑negative risk of single‑exon Sanger tests and reducing turnaround time to 3 weeks, all performed under UAE Federal Decree‑Law No. 4 of 2016 quality mandates.
UAE Regulatory & Data Privacy Adherence
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – Full compliance for patient data storage, processing, and cross‑border transfer.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Secure digital health records and telemedicine guidelines.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – Governs clinical consent, safety protocols, and patient rights.
- ISO 9001:2015 Certification – Quality management system (Certificate INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ERCC6 Gene Sequencing (NGS) for De Sanctis‑Cacchione Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube); VIP Mobile Phlebotomy & Cold‑Chain Home Collection available |
| Methodology Used | Next Generation Sequencing (NGS) – Full gene coverage, 500× average depth |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 58135-0 |
| 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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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians