Test Price
2,800 AED✅ Home Collection Available
ERCC6 Gene Cockayne Syndrome Type B Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ERCC6 لمتلازمة كوكاين من النوع B في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary / الملخص التنفيذي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed genetic counselors.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
يتم التحليل وفق أعلى معايير الجودة والخصوصية، مع استشارة وراثية شاملة قبل وبعد الفحص لضمان فهم كامل للنتائج السريرية. جميع البيانات محمية بموجب قانون حماية البيانات الشخصية الإماراتي (PDPL) والمرسوم الاتحادي رقم 41 لسنة 2024.
Clinical Test Overview
The ERCC6 Gene Cockayne Syndrome Type B NGS Test identifies pathogenic variants in the ERCC6 gene, responsible for Cockayne syndrome type B—a rare autosomal recessive disorder characterized by progressive neurodegeneration, growth failure, and photosensitivity. يُعد هذا الفحص الجيني المتطور بتقنية التسلسل من الجيل التالي الأداة الأكثر دقة لتأكيد التشخيص في الأطفال حديثي الولادة والرضع الذين تظهر عليهم علامات خلل التنسج.
| Feature | Our ERCC6 NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision / Coverage | 99.9% diagnostic sensitivity; deep coverage of ERCC6 exons ±10 bp splice sites | Variable coverage; risk of missing GC‑rich exon 6 of ERCC6 |
| Methodology | Next‑Generation Sequencing (NGS) with bidirectional Sanger confirmation | NGS without targeted single‑gene validation |
| Turnaround Time | 3–4 Weeks from sample receipt | 6–8 Weeks with variant classification delays |
| Genetic Counseling | Included pre‑ and post‑test by DHA‑licensed counselors | Often limited to report delivery |
Physician Insight & Clinical Safety Protocol
“As a DHA‑licensed pediatric geneticist, I want to reassure families that this test, while highly precise, is only one piece of a diagnostic puzzle. A positive result must always be correlated with clinical findings and family history, and a negative result may not exclude other genetic or non‑genetic causes of dysmorphology. My team is here to guide you through every result with empathy, ensuring no family navigates this journey alone.”
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
⚠ Medication Warning & Safety Directive
Do not discontinue any prescribed medication without consulting your treating physician. This test does not replace ongoing clinical management.
Exclusion Criteria (Home Collection & Test Safety):
- Patient under 6 months of age with active sepsis or hemodynamic instability – hospital‑based collection required.
- Inability to provide informed consent by parent/legal guardian (mandatory per UAE Child Protection Law).
- Recent whole blood transfusion (<2 weeks) – may interfere with germline DNA extraction.
ER Red Flags – Seek Immediate Medical Attention:
- Unexplained seizures or acute neurological regression during the waiting period.
- Severe skin blistering/burns after minimal sun exposure (photosensitivity crisis).
- Unexplained new‑onset organ failure in a suspected Cockayne syndrome child.
Frequently Asked Questions
1. How accurate is this in confirming Cockayne syndrome type B?
This NGS assay achieves over 99.9% diagnostic sensitivity for known pathogenic variants in the ERCC6 gene when combined with clinical findings and family history.
يُحقق هذا الفحص باستخدام التسلسل الجيني من الجيل التالي حساسية تشخيصية تتجاوز 99.9% للطفرات المسببة للمرض في جين ERCC6 عند تفسير النتائج مع التاريخ العائلي.
2. Can I use a saliva sample or a blood spot card instead of a blood draw?
Yes, we accept one drop of blood on an FTA card for DNA extraction, which is ideal for neonates and young children with difficult venous access.
نعم، يمكن استخدام نقطة دم واحدة على بطاقة FTA لاستخراج الحمض النووي، وهو حل آمن ومريح للأطفال حديثي الولادة ومن يعانون من صعوبة في سحب الدم الوريدي.
3. How long does it take to receive the results in the UAE?
Results are available within 3 to 4 weeks from sample receipt, with an integrated telephonic consultation to explain findings in plain language.
تظهر النتائج في غضون 3 إلى 4 أسابيع من استلام العينة، مع استشارة هاتفية مجانية لتفسير النتائج بلغة واضحة وداعمة للعائلة.
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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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