Test Price
2,800 AED✅ Home Collection Available
ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ERCC6 لمتلازمة الدماغ والعين والهيكل العظمي من النوع الأول في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي
- ضمان الدقة: حساسية تشخيصية بنسبة 99.9% عبر معالجة معتمدة وفق ISO 9001:2015.
- خدمات لوجستية متميزة: جمع عينات منزليّة بمستوى المستشفى عبر سلسلة تبريد معتمدة وخدمة سحب الدم المنزلي VIP.
- الإرشاد السريري: استشارة هاتفيّة بعد الفحص لتفسير النتائج بواسطة أخصائي سريري.
- التأمين: التحقق المباشر من التغطية التأمينيّة عبر واتساب +971 54 548 8731.
Overview
This test uses Next‑Generation Sequencing (NGS) to detect pathogenic variants across the entire ERCC6 gene, confirming Cerebrooculofacioskeletal Syndrome type 1 (COFS1), a severe autosomal recessive disorder characterised by dysmorphic facies, microcephaly, and skeletal anomalies. It is primarily ordered by Clinical Geneticists, Pediatricians, and Neonatologists when infants or children present with dysmorphology and developmental delay, enabling early supportive care and family genetic counselling.
| Feature | Our NGS Test | Closest Alternative |
|---|---|---|
| Methodology | Full‑gene NGS with high‑depth coverage | Sanger sequencing of selected exons only |
| Diagnostic Sensitivity | 99.9% for coding regions & splice sites | ~80% (misses deep intronic variants) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Report | ACMG‑compliant report with genetic counselling support | Basic variant list |
Pre‑Test Requirements
- A detailed clinical history and a three‑generation pedigree chart (genetic counselling session mandatory).
- Sample types accepted: whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card.
- Home collection service available daily 8 AM – 11 PM; separate room‑temperature transport for FTA cards.
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011): “This genetic analysis provides lifesaving clarity for families navigating the uncertainty of COFS1. I recommend that all abnormal results be correlated with clinical findings and discussed in a genetic counselling session to understand recurrence risks and supportive care pathways.”
Medication Warning:
Do not discontinue prescribed medication without consulting your doctor. Genetic results should not replace clinical management decisions.
Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent (for minors, both parents/legal guardians must consent per 2026 CDS Law).
- Active systemic infection or severe haematological disorder that may compromise DNA quality; alternative sampling may be advised.
- Seek immediate medical care if the patient develops seizures, recurrent apnoea, or severe feeding difficulties, as these may indicate disease progression.
- This test is not designed for standalone prenatal diagnosis; always combine with genetic counselling and parental carrier testing under IVD regulations.
Patient FAQ & Clinical Guidance
What does the ERCC6 genetic test detect?
Key Insight: This identifies disease‑causing variants in the ERCC6 gene, confirming cerebrooculofacioskeletal syndrome type 1 and guiding prognosis.
يكشف هذا الاختبار عن الطفرات المسبّبة للمرض في جين ERCC6 بالكامل، مما يؤكّد تشخيص متلازمة الدماغ والعين والهيكل العظمي من النوع الأول ويوجّه خطة العلاج والاستشارة الوراثية للأسرة.
How accurate is the NGS method for COFS1 diagnosis?
Key Insight: NGS achieves 99.9% diagnostic sensitivity for coding and splice‑site variants, exceeding Sanger sequencing and providing comprehensive genetic insight.
يحقّق الجيل التالي من التسلسل حساسية تشخيصية بنسبة 99.9% للمناطق المشفّرة ومواقع الربط، متفوقًا على التسلسل التقليدي ومقدّمًا رؤية جينية كاملة.
How soon will I receive results and what support is provided?
Key Insight: Results are ready in 3–4 weeks; a board‑certified genetic counsellor provides a telephone session to interpret findings and plan next steps.
تظهر النتائج خلال 3-4 أسابيع، ويقدّم مستشار وراثي معتمد جلسة هاتفية لتفسير النتائج ووضع خطة المتابعة.
UAE Regulatory Compliance: All procedures adhere to Federal Decree‑Law No. 41 of 2024 (Article 87) on human genetic testing, the 2026 CDS Law safeguarding minors, and the UAE Personal Data Protection Law. Your genetic information is stored and processed with ISO 9001:2015‑certified security.
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All reports reviewed by DHA-Certified physicians