Test Price
2,800 AED✅ Home Collection Available
MED12 Gene Sequencing for Opitz-Kaveggia Syndrome (NGS) in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO 9001:2015 accredited next‑generation sequencing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid hospital‑grade home collection via ISO‑certified cold‑chain transport and VIP mobile phlebotomy (DHA‑licensed) available daily from 8 AM to 11 PM.
- 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.
Test Overview & Methodology
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. 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 Protocols
“A molecular diagnosis of MED12‑related Opitz‑Kaveggia syndrome provides families with definitive answers and guides targeted interventions that can significantly improve developmental outcomes. This NGS‑based test should always be integrated with a comprehensive clinical evaluation and three‑generation pedigree analysis to ensure accurate interpretation. Results must be contextualised within the full clinical picture by a qualified genetic specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Safety
Medication Continuity Advisory
Do not discontinue or modify any prescribed medication for your child without explicit guidance from the treating physician. Genetic testing results may inform future therapeutic choices but should never replace ongoing clinical management.
Exclusion & Safety Criteria
- Exclusion criteria: No absolute contraindications exist for this blood‑based test. However, please inform our team if the patient has received a blood transfusion within the last two 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. All personal data is handled in strict compliance with UAE data protection law.
Patient FAQ & Clinical Guidance
1. What is the MED12 gene test and why is it important?
This test uses next‑generation sequencing to detect mutations in the MED12 gene that cause Opitz‑Kaveggia syndrome, providing a definitive molecular diagnosis. When clinical features such as facial dysmorphism, developmental delay, and congenital anomalies suggest the syndrome, early confirmation through genetic testing enables targeted therapies, surveillance, and informed family planning decisions.
2. How is the sample collected and does it hurt?
A simple blood draw or a painless finger‑prick for a 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 transported under strict temperature‑controlled conditions.
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 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.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All clinical testing, patient consent, and safety protocols comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory operates under DHA Facility License Number 1143 and adheres to the highest standards of data confidentiality and clinical governance.
Clinical & Logistical Metadata
| Test Name | MED12 Gene Sequencing for Opitz-Kaveggia Syndrome (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 81231-1 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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