Test Price
2,800 AED✅ Home Collection Available
MED12 Gene Sequencing for Opitz-Kaveggia Syndrome (NGS) in UAE | 2800 AED | 2026 DHA Guidelines
تحليل تسلسل جين MED12 لمتلازمة أوبيتز-كافيجيا (NGS) في الإمارات | 2800 درهم | إرشادات هيئة الصحة بدبي 2026
Executive Summary (الملخص التنفيذي)
- Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO 9001:2015 accredited next‑generation sequencing (Cert: INT/EGQ/2509DA/3139). ضمان الدقة 99.9% عبر مختبر معتمد من الآيزو.
- Premium Logistics: Paid hospital‑grade home collection via ISO‑certified cold‑chain transport and VIP mobile phlebotomy (DHA‑licensed).
- Clinical Guidance: Complimentary telephonic post‑test clinical guidance with a genetic counsellor to interpret results and plan next steps.
- Insurance Support: Direct billing verification handled instantly via WhatsApp at +971 54 548 8731.
Overview
This advanced Next‑Generation Sequencing (NGS) test analyses the entire coding region of the MED12 gene to diagnose Opitz‑Kaveggia syndrome (FG syndrome type 1), a rare X‑linked multiple congenital anomaly disorder. يستخدم هذا الفحص الجيني المتطور تقنية تسلسل الجيل التالي لتحليل جين MED12 وتأكيد تشخيص متلازمة أوبيتز-كافيجيا. The test delivers definitive molecular confirmation essential for personalised management, early intervention, and family planning.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage (all exons + splice sites) | Limited to a single, pre‑selected exon or hotspot |
| Method | High‑depth Next‑Generation Sequencing | Conventional Sanger sequencing |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocol
“As a pediatrician caring for children with complex syndromic disorders, I recognise that a molecular diagnosis of MED12‑related Opitz‑Kaveggia syndrome empowers families with clarity and directs life‑changing early interventions. Always interpret this test alongside a thorough clinical evaluation and detailed pedigree analysis – the result is a vital piece, not the whole picture. Please ensure you never stop any prescribed medication without consulting your child’s treating physician.”
— Dr. Prabhakar Reddy, DHA License: 61713011
⚠ Do not discontinue prescribed medication without consulting your doctor.
Safety & Exclusion Criteria
- Exclusion criteria: No absolute contraindications. However, please inform our team if the patient has received a blood transfusion within the last 2 weeks, as this may temporarily affect DNA quality.
- Emergency red flags: If your child experiences seizures, respiratory distress, or severe feeding difficulties before or after sample collection, seek immediate emergency medical care.
- This test must be ordered by a licensed physician and preceded by a professional genetic counselling session. UAE Federal Decree‑Law No. 41 of 2024 (Art. 87) mandates proper consent and genetic counselling; for minors, CDS Law 2026 (Wadeema’s Law) applies. All personal data is protected under UAE PDPL.
Patient FAQ & Clinical Guidance
1. What is the MED12 gene test and why is it important?
The MED12 gene test uses next‑generation sequencing to detect mutations causing Opitz‑Kaveggia syndrome, aiding diagnosis. This provides a definitive molecular confirmation when clinical features (facial dysmorphism, developmental delay, congenital anomalies) suggest the syndrome. Early diagnosis allows targeted therapies, surveillance, and informed family planning.
يستخدم تحليل جين MED12 تقنية تسلسل الجيل التالي للكشف عن الطفرات المسببة لمتلازمة أوبيتز-كافيجيا، مما يوفر تشخيصًا جزيئيًا دقيقًا عند الاشتباه السريري.
2. How is the sample collected and does it hurt?
A simple blood draw or a painless finger‑prick for dried blood spot (FTA card) is all that is needed. No fasting or special preparation is required. Our DHA‑licensed mobile phlebotomist can perform the collection comfortably at your home, using a child‑friendly approach to minimise discomfort. The sample is then transported under strict cold‑chain conditions.
يتم جمع العينة بسحب دم بسيط أو وخز إصبع غير مؤلم للحصول على بقعة دم جافة، ولا يحتاج المريض لأي تحضيرات خاصة أو صيام مسبق.
3. How long do results take and what does the report include?
Results are ready in 3–4 weeks and include a detailed clinical interpretation with genetic counselling recommendations. The report clearly states the presence or absence of disease‑causing variants, their pathogenicity classification according to international guidelines, and actionable recommendations for ongoing care and family screening. A complimentary tele‑consultation with our genetic counsellor is included to explain every finding.
تظهر النتائج خلال 3–4 أسابيع وتتضمن تفسيرًا سريريًا دقيقًا وتوصيات للاستشارة الوراثية، لضمان فهم كامل للخطوات التالية.
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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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