Test Price
2,800 AED✅ Home Collection Available
ERCC8 Gene (Cockayne Syndrome Type A) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ERCC8 لمتلازمة كوكايين من النوع A في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: اختبار جيني متقدم يكشف طفرات جين ERCC8 المرتبطة بمتلازمة كوكايين من النوع A بدقة تشخيصية 99.9%، مع خدمة سحب منزلي معتمدة من الآيزو، وامتثال كامل لمرسوم القانون الاتحادي رقم 41 لسنة 2024 وقانون CDS لحماية بيانات القُصَّر. التوجيه السريري ما بعد الاختبار متاح عبر الهاتف لضمان فهم النتائج.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑certified NGS (CEP/ISO 9001:2015).
- ✓ Premium Logistics: Paid Hospital‑Grade Home Collection with ISO‑certified cold‑chain and VIP mobile phlebotomy (8 AM – 11 PM).
- ✓ Clinical Guidance: Telephonic Post‑Test Clinical Correlation – speak directly with a DHA‑licensed specialist.
- ✓ Insurance Concierge: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview: ERCC8 Genetic Test
This next‑generation sequencing (NGS) test analyses the entire coding region of the ERCC8 gene, detecting pathogenic variants responsible for Cockayne syndrome type A – a rare, autosomal recessive DNA‑repair disorder. يقوم الاختبار بتحليل كامل الجين ERCC8 لتأكيد التشخيص الجيني بدقة فائقة.
| Feature | Our Test (DHA‑compliant NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Full‑gene NGS with CNV analysis | Exon‑by‑exon Sanger sequencing |
| Diagnostic Yield | >98% for coding variants | ~85% (misses deep intronic/CNV) |
| Turnaround | 3‑4 weeks (ISO‑accredited) | 4‑6 weeks |
| Pre‑test Counselling | Included genetic counselling session | Often separate |
| LOINC | 82938-9 (ERCC8 full gene analysis) | Panel‑dependent |
Clinical Insight & Safety Protocol
“As a clinician with decades of experience in paediatric genetics, I see each test as a window into a family’s hopes and fears. A molecular diagnosis of Cockayne syndrome should always be integrated with detailed clinical evaluation, multidisciplinary follow‑up, and compassionate genetic counselling. No single result replaces the art of medicine.” — Dr. Prabhakar Reddy, DHA License 61713011
⚠️ Medication Safety Notice
Do not discontinue any prescribed medication without consulting your treating physician. This genetic test is for diagnostic classification and does not provide immediate therapeutic recommendations.
Exclusion Criteria & Emergency Red Flags
- Patient is haemodynamically unstable or requires acute intensive care.
- Inability to obtain valid informed consent from legal guardian.
- Blood transfusion within the preceding 2 weeks (may introduce donor DNA).
- If the child exhibits rapid neurological deterioration, intractable seizures, or respiratory failure – seek emergency care prior to sample collection.
Frequently Asked Questions
1. What is the ERCC8 gene test for Cockayne syndrome type A?
This test sequences the entire ERCC8 gene to detect pathogenic variants that cause Cockayne syndrome type A, a rare autosomal recessive disorder marked by postnatal growth failure, photosensitivity, and progressive neurodegeneration.
يقوم هذا الاختبار بتحليل تسلسل جين ERCC8 بالكامل للكشف عن الطفرات المسببة لمتلازمة كوكايين من النوع A، وهو اضطراب وراثي نادر متنحٍ يتسم بفشل النمو والحساسية للضوء والتدهور العصبي.
2. Who should consider this test and how is the sample collected?
Pediatric patients with clinical features suggestive of Cockayne syndrome, siblings of a confirmed case, and parents seeking carrier testing can undergo this test; a simple blood draw, DNA FTA card, or extracted DNA sample is collected by our DHA‑licensed mobile phlebotomist at your home.
يمكن إجراء الاختبار للأطفال الذين تظهر عليهم أعراض متلازمة كوكايين، والأشقاء، والوالدين للكشف عن الحاملين؛ يتم جمع العينة عن طريق سحب منزلي بسيط.
3. What do the results mean, and what support is provided after the test?
A positive result confirms the diagnosis and enables targeted management; a negative result may still require further testing; our board‑certified genetic counsellors provide a dedicated post‑ telephonic session to explain the findings and guide next steps.
تؤكد النتيجة الإيجابية التشخيص وتُمكن من وضع خطة علاجية موجهة؛ نقدم استشارة وراثية هاتفية بعد الاختبار لشرح النتائج.
UAE Legal Compliance
Federal Decree‑Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors’ Genetic Data), UAE PDPL. Facility License: 9834453.
Quality Accreditation
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). LOINC 82938‑9; ICD‑10‑CM: Q87.1, Z15.09, E34.3.
Support & Insurance
WhatsApp: +971545488731 | Home Collection 8 AM–11 PM
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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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