Test Price
2,800 AED✅ Home Collection Available
ERCC8 Gene (Cockayne Syndrome Type A) Genetic Test in UAE
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑certified NGS (ISO 9001:2015).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Post‑Test Telephonic Session with a DHA‑licensed Consultant Medical Genetics specialist.
- ✓ Insurance Concierge: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
ERCC8 Full Gene Analysis by Next‑Generation Sequencing
This next‑generation sequencing (NGS) test analyses the entire coding region of the ERCC8 gene, detecting pathogenic variants responsible for Cockayne syndrome type A – a rare, autosomal recessive DNA‑repair disorder characterised by postnatal growth failure, photosensitivity, and progressive neurodegeneration. The assay includes copy number variation (CNV) analysis and covers all exons and flanking intronic regions.
| Feature | This Test (NGS with CNV) | Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Full‑gene NGS with CNV analysis | Exon‑by‑exon Sanger sequencing |
| Diagnostic Yield | >98% for coding variants | ~85% (misses deep intronic/CNV) |
| Turnaround | 3–4 weeks (ISO‑accredited) | 4–6 weeks |
| Pre‑test Counselling | Included genetic counselling session | Often separate |
Physician Insight & Safety Protocols
“A molecular diagnosis of Cockayne syndrome through ERCC8 sequencing provides families with definitive answers and enables anticipatory care planning. However, genetic test results must always be correlated with the full clinical phenotype and interpreted within a multidisciplinary framework that includes neurology, ophthalmology, and genetics. Our role is to guide families through this complex journey with empathy and scientific rigour.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
⚠️ Important Clinical Guidance
Do not discontinue any prescribed medication without consulting your treating physician. This genetic test is for diagnostic classification and does not provide immediate therapeutic recommendations. A positive result confirms the diagnosis and enables targeted management; a negative result may still require further testing.
Exclusion Criteria & Emergency Red Flags
Absolute Contraindications for Sample Collection
- Patient is haemodynamically unstable or requires acute intensive care.
- Inability to obtain valid informed consent from legal guardian.
- Blood transfusion within the preceding 2 weeks (may introduce donor DNA).
- If the child exhibits rapid neurological deterioration, intractable seizures, or respiratory failure – seek emergency care prior to sample collection.
Patient FAQ & Clinical Guidance
1. What is the ERCC8 gene test for Cockayne syndrome type A?
This test sequences the entire ERCC8 gene to detect pathogenic variants that cause Cockayne syndrome type A, a rare autosomal recessive disorder marked by postnatal growth failure, photosensitivity, and progressive neurodegeneration. The analysis includes all coding exons and flanking intronic regions with CNV detection.
2. Who should consider this test and how is the sample collected?
Paediatric patients with clinical features suggestive of Cockayne syndrome, siblings of a confirmed case, and parents seeking carrier testing can undergo this test. A simple blood draw (peripheral whole blood in EDTA), DNA FTA card, or extracted genomic DNA sample is collected by our DHA‑licensed mobile phlebotomist at your home between 8 AM and 11 PM.
3. What do the results mean, and what support is provided after the test?
A positive result confirms the diagnosis and enables targeted management; a negative result may still require further testing. Our board‑certified Consultant Medical Genetics specialist provides a dedicated post‑test telephonic session to explain the findings and guide next steps, including referrals to paediatric neurology, ophthalmology, and developmental services.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: This test is performed in full 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. All genetic data is encrypted, access‑controlled, and processed under strict confidentiality protocols. Clinical safety and informed consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory holds DHA Facility License Number 1143 and operates under the corporate brand DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | ERCC8 Gene (Cockayne Syndrome Type A) Genetic Test – Full Gene NGS with CNV Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (ISO‑accredited) |
| Sample Type / Matrix | Peripheral whole blood (EDTA), DNA FTA card, or extracted genomic DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with Copy Number Variation (CNV) Analysis |
| ICD-10-CM Code | Q87.1, Z15.09, E34.3 |
| LOINC Code | 82938-9 (ERCC8 gene full sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Operated by DNA Labs UAE |
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