Test Price
2,800 AED✅ Home Collection Available
RAB3GAP2 Gene (Martsolf Syndrome) Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين RAB3GAP2 (متلازمة مارتسولف) بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain, VIP Mobile Phlebotomy (8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance with result interpretation.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
الدقة التشخيصية 99.9% عبر المعالجة المعتمدة من ISO. خدمة سحب الدم المنزلي عبر سلسلة تبريد معتمدة بتقنية VIP. استشارة طبية هاتفية بعد ظهور النتيجة. التحقق من التغطية التأمينية عبر واتساب +971 54 548 8731.
Overview
This next-generation sequencing test analyzes the entire coding region of the RAB3GAP2 gene to definitively diagnose Martsolf syndrome—a rare autosomal recessive disorder marked by congenital cataracts, intellectual disability, and hypogonadism. يفحص هذا الاختبار الجيني المنطقة المشفرة لجين RAB3GAP2 لتشخيص متلازمة مارتسولف، وهو اضطراب وراثي نادر يتميز بإعتام عدسة العين الخلقي والإعاقة الذهنية وقصور الغدد التناسلية.
| Feature | Our Test (ISO 9001:2015) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | NGS – full coding region & splice sites | Sanger – limited to single variant confirmation |
| Method | Next Generation Sequencing (Illumina™) | Capillary Electrophoresis |
| Turnaround | 3–4 Weeks | 4–6 Weeks |
| Coverage | High depth (≥100X) | Limited to selected exons |
Physician Insight & Safety Protocol
“This test is a critical diagnostic tool for families affected by developmental syndromes; while the genetic clarity it provides is powerful, the results must be interpreted alongside detailed clinical findings and family history to guide individualized care. Always consult a pediatrician or clinical geneticist for comprehensive evaluation.”
— Dr. Prabhakar Reddy, DHA Registered Physician (License: 61713011)
⚠ Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Emergency Red Flags
- Not for asymptomatic minors without parental consent – CDS Law 2026 (Art. 12) strictly prohibits genetic testing in minors without legal guardian approval.
- Contraindicated in acute febrile illness or severe infection; defer blood draw until recovery.
- Not indicated as the sole diagnostic tool for isolated cataracts without syndromic suspicion.
- ER Red Flags: Sudden developmental regression, new-onset seizures, or loss of previously acquired milestones—urgent pediatric neurology evaluation required.
Compliance: This service is operated under UAE Federal Decree-Law No. 41 of 2024 (Art. 87) and fully adheres to the UAE Personal Data Protection Law (PDPL). Clinical data is handled per ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Patient FAQ & Clinical Guidance
What is the purpose of RAB3GAP2 gene testing?
RAB3GAP2 gene testing identifies pathogenic variants causing Martsolf syndrome, enabling precise diagnosis, genetic counseling, and informed family planning.
يحدد اختبار جين RAB3GAP2 الطفرات المسببة لمتلازمة مارتسولف، مما يتيح تشخيصًا دقيقًا واستشارة وراثية وتخطيطًا عائليًا مستنيرًا.
How long does it take to receive results?
Results are typically delivered within 3 to 4 weeks, utilizing high-depth NGS technology for comprehensive variant detection.
تظهر النتائج عادةً خلال 3 إلى 4 أسابيع باستخدام تقنية التسلسل العميق للكشف الشامل عن الطفرات.
Is a doctor’s referral required for this test?
Yes, a referral from a pediatrician or clinical geneticist is mandatory; self-referral is not permitted under UAE healthcare regulations.
نعم، إحالة من طبيب أطفال أو أخصائي وراثة سريرية إلزامية؛ ولا يُسمح بالإحالة الذاتية بموجب لوائح الرعاية الصحية في الإمارات.
Pre-test Requirement: A genetic counselling session and detailed pedigree chart are mandatory before sample collection. The requires a blood sample, extracted DNA, or one drop of blood on an FTA card. No dietary or medication adjustments are needed unless specifically advised.
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التحقق من التغطية التأمينية
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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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