Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3 to 4 Weeks
ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 (COFS4) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Platform.
- 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 physicians.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This test detects pathogenic variants in the ERCC1 gene causing cerebrooculofacioskeletal syndrome type 4 (COFS4), a severe autosomal recessive dysmorphology disorder. It confirms the molecular diagnosis in clinically suspected individuals and enables familial carrier screening.
| Parameter | Our Test (COFS4 NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (Illumina NovaSeq) โ full gene analysis | Sanger Sequencing (exon-by-exon, limited throughput) |
| Diagnostic Precision | 99.9% sensitivity & 100% coverage of coding exons ยฑ10 bp intronic boundaries | ~95% sensitivity; may miss deep intronic or large deletions |
| Turnaround Time | 3 to 4 Weeks (ISO-certified rapid reporting) | 5โ6 Weeks |
| Concurrent Analysis | Simultaneous coverage of potential ERCC1 copy number changes | Not possible; requires additional MLPA |
Physician Insight & Safety Protocols
โAs a clinician, I understand the immense anxiety families face while awaiting a precise genetic diagnosis. This ERCC1 test provides molecular clarity that can directly shape early interventions and long-term care planning. However, it is crucial to interpret the result within the full clinical picture, and I strongly advocate for a follow-up genetic counseling session to discuss inheritance risks and family options.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory
Do not discontinue any prescribed medication without first consulting your supervising physician. Results from genetic testing should be correlated with clinical findings and confirmed by a qualified genetic counselor.
Exclusion Criteria
- Failure to provide informed consent or refusal of genetic testing.
- Active bleeding disorder or severe coagulopathy risk unless blood sample can be safely obtained by a medical professional.
ER Red Flags (Seek Immediate Care): Acute respiratory distress, seizures, severe hypotonia, sudden loss of consciousness, failure to thrive with significant weight loss.
Patient FAQ & Clinical Guidance
1. What is the ERCC1 COFS4 genetic test and how does it help?
This test analyzes the entire coding region of the ERCC1 gene using Next-Generation Sequencing to detect mutations causing cerebrooculofacioskeletal syndrome type 4. A positive result confirms the diagnosis and enables tailored medical surveillance and family planning. Results are discussed in post-test counseling to address inheritance risks and carrier status.
2. How long do results take and what does the process involve?
Results are available within 3 to 4 weeks. A simple blood sample (or DNA/FTA card) is collected by our ISO-certified phlebotomy team. The DNA is extracted, enriched for the ERCC1 gene, and sequenced on a high-fidelity NGS platform. Bioinformatic analysis and expert clinical validation ensure every report meets DHA standards. You will receive a teleconsultation to explain the outcome and next steps.
3. Is home blood collection available across the UAE?
Yes, VIP Mobile Phlebotomy with temperature-controlled cold-chain is available daily from 8 AM to 11 PM across all Emirates including Dubai, Abu Dhabi, Sharjah, and the Northern Regions. Simply contact us on WhatsApp to schedule a visit. Direct insurance billing can be verified beforehand.
UAE Regulatory & Data Privacy Adherence
Legal Framework: This genetic 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. Patient data is encrypted and stored in DHA-audited facilities. Consent is obtained per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Laboratory Accreditation: DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and licensed by DHA under Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 (COFS4) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Blood (EDTA), Extracted DNA, or Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene analysis |
| ICD-10-CM Code | Q87.1 (COFS4), Z14.8 (Carrier), Z31.5 (Genetic counseling) |
| LOINC Code | 81233-3 (ERCC1 gene full mutation analysis) |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians