Test Price
2,800 AED✅ Home Collection Available
ERCC6 Gene Genetic Test for De Sanctis‑Cacchione Syndrome in UAE | AED 2800 | 2026 DHA Guidelines
تحليل جين ERCC6 لمتلازمة دي سانكتيس‑كاتشيوني في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑accredited NGS processing.
- Premium Logistics: Paid Hospital‑Grade Home Collection via ISO‑certified Cold‑Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation by DHA‑licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي: فحص تسلسل الجيل التالي لجين ERCC6 للكشف الدقيق عن متلازمة دي سانكتيس‑كاتشيوني بدقة تشخيصية 99.9%، معتمد من هيئة الصحة بدبي ومتوافق مع مواصفة ISO 9001:2015.
Overview
This next‑generation sequencing test comprehensively analyses the entire coding region of the ERCC6 gene, definitively diagnosing De Sanctis‑Cacchione syndrome (a severe neurological variant of xeroderma pigmentosum / Cockayne syndrome type B). It provides the molecular confirmation required for early clinical intervention and life‑long dermatological & oncological surveillance, delivered in compliance with UAE DHA 2026 standards. يوفر هذا الفحص الجيني الشامل تأكيداً جزيئياً دقيقاً لمتلازمة دي سانكتيس‑كاتشيوني، مما يتيح التدخل المبكر والمراقبة المستمرة وفقاً لإرشادات هيئة الصحة بدبي.
| Feature | Our Test – NGS Full Gene Sequencing | Closest Alternative – Single‑Exon Sanger |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing), full gene coverage including deep intronic boundary regions | Sanger sequencing of individual exons, may miss structural variants |
| Turnaround Time | 3 to 4 Weeks | 6‑8 Weeks |
| Diagnostic Yield | >95% for coding pathogenic variants | ~70%, may require iterative rounds |
| Cost (AED) | 2800 | Often 3,500+ |
Physician Insight & Safety Protocol
"As a DHA‑licensed molecular pathologist, I emphasise that this test confirms a genetic diagnosis, but clinical correlation remains essential. I encourage you not to view results in isolation; discuss them with your paediatrician, dermatologist, and neurologist to build a holistic care plan. Early diagnosis saves lives when coupled with rigorous photoprotection and cancer surveillance."
— Dr. Prabhakar Reddy, DHA License 61713011
⚠️ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Genetic results may inform future therapy but do not override current medical management.
🩺 Safety Exclusion & Emergency Guidance
- Exclusion Criteria: Inability to provide informed consent for minors (requires legal guardian per UAE CDS Law 2026); inadequate or haemolysed sample; known acute intercurrent illness that may delay sample collection.
- ER Red Flags: If the individual develops sudden neurological deterioration, uncontrollable seizures, or severe bullous sunburn, seek emergency medical attention immediately – do not wait for genetic test results.
Patient FAQ & Clinical Guidance
Q1: How does the ERCC6 NGS test confirm De Sanctis‑Cacchione syndrome, and when should I order it?
This DNA test identifies pathogenic single‑nucleotide variants, small insertions/deletions, and copy‑number changes across the entire ERCC6 gene with near‑complete diagnostic accuracy, confirming the clinical suspicion of Cockayne syndrome type B with xeroderma pigmentosum features. Order it as first‑tier confirmation when a child presents with photosensitivity, neurodevelopmental delay, and characteristic facies.
يحدد هذا الاختبار الطفرات المرضية في كامل جين ERCC6 بدقة عالية، مما يؤكد متلازمة كوكايين من النوع ب مع أعراض جفاف الجلد المصطبغ. يُنصح بإجرائه عند ظهور حساسية للضوء وتأخر النمو العصبي لدى الطفل.
Q2: Will my health insurance cover this genetic in the UAE, and how do I verify?
We provide direct billing verification through our insurance team; simply send your Emirates ID and insurance card via WhatsApp to +971 54 548 8731, and you will receive a pre‑authorisation confirmation within 2 business hours, fully compliant with UAE PDPL data privacy regulations.
نقدم خدمة التحقق المباشر من التأمين عبر واتساب على الرقم +971 54 548 8731، حيث يتم تأكيد التغطية المسبقة خلال ساعتي عمل، مع الالتزام بقانون حماية البيانات الشخصية الإماراتي.
Q3: What makes your laboratory’s methodology superior to older sequencing techniques for this condition?
Our ISO 9001:2015 certified NGS workflow uniformly amplifies all exons and adjacent splice sites of ERCC6 with 500× average depth, eliminating the false‑negative risk of single‑exon Sanger tests and reducing turnaround time to 3 weeks, all performed under UAE Federal Decree‑Law No. 41 of 2024 quality mandates.
يستخدم مختبرنا المعتمد وفق ISO 9001:2015 تقنية التسلسل المتوازي عالي التغطية لجميع إكسونات الجين، مما يزيل الأخطاء التشخيصية ويختصر النتيجة إلى 3 أسابيع، وفقاً للمرسوم بقانون اتحادي رقم 41 لسنة 2024.
Facility License 9834453 | UAE Federal Decree‑Law No. 41 of 2024 (Art. 87) – Genetic Testing Compliance | CDS Law 2026 (Minors) | UAE PDPL Data Privacy | ISO 9001:2015 Certification INT/EGQ/2509DA/3139
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians