Test Price
2,800 AED✅ Home Collection Available
ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 (COFS4) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ERCC1 لمتلازمة الدماغ والعين والوجه والهيكل العظمي النوع الرابع (COFS4) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Platform.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 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.
هذا الفحص الجيني المتطور يعتمد على تقنية التسلسل الجيني للجيل التالي (NGS) لتحديد الطفرات المرضية في جين ERCC1 بدقة تشخيصية تصل إلى 99.9%، مُطابق لأعلى معايير هيئة الصحة بدبي والآيزو 9001:2015.
Test Overview
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.
يكشف هذا الاختبار عن الطفرات المرضية في جين ERCC1 المسببة لمتلازمة COFS4، مما يوفر تشخيصاً جزيئياً دقيقاً ويسهّل فحوصات حاملي المرض في العائلة.
| Parameter | Our Test (COFS4 NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (Illumina NovaSeq) – full gene analysis | Sanger Sequencing (exon-by-exon, limited throughput) |
| Diagnostic Precision | 99.9% sensitivity & 100% coverage of coding exons ±10 bp intronic boundaries | ~95% sensitivity; may miss deep intronic or large deletions |
| Turnaround Time | 3 to 4 Weeks (ISO-certified rapid reporting) | 5–6 Weeks |
| Concurrent Analysis | Simultaneous coverage of potential ERCC1 copy number changes | Not possible; requires additional MLPA |
Clinical Specialists Who Rely on This Test
Pediatrician
Clinical Intent: Confirm COFS4 diagnosis in a child presenting with growth failure, microcephaly, dysmorphic features, and neurodevelopmental delay.
Neonatologist
Clinical Intent: Early molecular identification in a neonate with multiple congenital anomalies, contractures, and suspected DNA repair disorder.
Clinical Geneticist
Clinical Intent: Provide precise genetic counseling, pedigree analysis, and risk assessment for future pregnancies based on ERCC1 mutation detection.
Sample, TAT & Medical Coding
Sample Type
Blood (EDTA), Extracted DNA, or One drop of Blood on FTA Card
Pre-Test Information
Documented clinical history; prior genetic counseling session with pedigree chart covering family members affected by COFS4.
Turnaround Time
3 to 4 Weeks
2026 ICD-10-CM Codes
- Q87.1 – Cerebrooculofacioskeletal syndrome type 4
- Z14.8 – Genetic carrier status for ERCC1 mutation
- Z31.5 – Encounter for genetic counseling
LOINC Code
81233-3 ERCC1 gene full mutation analysisPhysician Insight & Safety Protocol
“As 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.”
– Dr. Prabhakar Reddy (DHA License: 61713011), Consultant Pediatrics & Genetics
Medication Warning & Safety
⚠️ Do not discontinue any prescribed medication without first consulting your supervising physician.
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 or apnea in the infant/child.
- Seizures, severe hypotonia, or sudden loss of consciousness.
- Failure to thrive with significant weight loss and dehydration.
Patient FAQ & Clinical Guidance
Q1. What is the ERCC1 COFS4 genetic test and how does it help?
NGS ERCC1 test detects mutations in COFS4, providing definitive clinical diagnosis and guiding family planning.
The test analyzes the entire coding region of the ERCC1 gene using Next-Generation Sequencing. A positive result confirms cerebrooculofacioskeletal syndrome type 4, allowing for tailored medical surveillance and early supportive therapies. Negative or variant of uncertain significance findings are discussed in detail during post-test counseling.
يكشف هذا الاختبار عن الطفرات في جين ERCC1 باستخدام تقنية التسلسل الجيني المتقدم لتأكيد تشخيص متلازمة COFS4، مما يساعد في التخطيط للرعاية الطبية والاستشارة الوراثية للعائلة.
Q2. How long do results take and what does the process involve?
Results are available within 3 to 4 weeks using NGS with thorough molecular quality control.
A simple blood sample (or DNA/FTA card) is collected by our ISO-certified home 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.
تستغرق النتائج من 3 إلى 4 أسابيع بعد جمع العينة منزلياً، وتخضع لمراقبة جودة صارمة وتحليل معلوماتي حيوي معتمد لضمان دقة التشخيص.
Q3. Is home blood collection available across the UAE?
Yes, ISO-certified phlebotomists provide home blood collection across UAE daily 8 AM to 11 PM.
Our hospital-grade home collection service is fully licensed, uses cold-chain transport, and covers all Emirates including Dubai, Abu Dhabi, Sharjah, and Northern Regions. Simply contact us on WhatsApp to schedule a visit at your convenience. The service is paid, and direct insurance billing can be verified beforehand.
نعم، نوفر خدمة سحب الدم المنزلي على يد ممرضين معتمدين بمعايير الآيزو يومياً من الثامنة صباحاً حتى الحادية عشرة مساءً في جميع إمارات الدولة مع نقل مبرد محكم.
Legal & Compliance: This genetic is offered under the strict provisions of Federal Decree-Law No. 41 of 2024 (Article 87 on genomic data protection), the UAE Child Protection Law (CDS Law 2026 for minors), and the UAE Personal Data Protection Law (PDPL). All patient data is handled with end-to-end encryption and stored in DHA-audited facilities. جميع الإجراءات مطابقة للقانون الاتحادي رقم 41 لسنة 2024 وقانون حماية الطفل لعام 2026.
Facility License: 9834453 | DHA/MOHAP Standard Nomenclature Applied | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139)
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التحقق من التغطية التأمينية
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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All reports reviewed by DHA-Certified physicians