Test Price
2,800 AED✅ Home Collection Available
FAM20C Gene Raine Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين FAM20C لمتلازمة رين بتقنية التسلسل الجيني (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- 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 a certified genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (PDPL-compliant).
- الفحص الجيني المتقدم معتمد من هيئة الصحة بدبي، يقدم نتائج دقيقة وفقًا للمعايير الدولية.
Overview of the Test
Clinical Utility: The FAM20C gene encodes a kinase essential for bone mineralization and phosphate regulation; mutations cause Raine syndrome (lethal osteosclerotic bone dysplasia) with dermatological and immunological features. This NGS test sequences all coding regions to detect single nucleotide variants, small indels, and copy number changes.
يُعد اختبار FAM20C الجيني أداة تشخيصية دقيقة لتحديد الطفرات المسببة لمتلازمة رين، مما يساعد في توجيه العلاج والتخطيط الأسري.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | NGS (Illumina® platform) | Sanger sequencing (Gene‑by‑Gene) |
| Coverage | Whole gene ± flanking regions | Targeted exons only |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Sensitivity | >99.9% (confirmed by orthogonal validation) | ~97% |
Pre‑Test Requirements
- A compulsory genetic counselling session (pedigree charting of affected family members) must be completed before sample collection.
- Provide comprehensive clinical history, including dermatological and immunological manifestations.
- Sample types accepted: Whole blood (EDTA), extracted DNA, or a single drop of blood on an FTA card.
- No fasting or medication modification is required; however, do not discontinue any prescribed treatment without medical advice.
Physician Insight & Safety Protocol
“As a physician, I understand that genetic testing can be emotionally challenging. Please remember that a positive result does not define your child's future, but rather empowers you with knowledge for proactive management. I encourage you to discuss results with your healthcare provider to develop a personalized care plan.” – Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠ Medication & Safety Alert
Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria / ER Red Flags
- This test is not for emergency diagnosis; it cannot rule out acute complications of Raine syndrome.
- If the patient develops respiratory distress, intractable seizures, severe infections, or neonatal fractures, seek immediate emergency care.
- The service is intended for individuals with clinical suspicion or family history; it is not a screening tool for asymptomatic minors without parental consent (CDS Law 2026, Art. 87 compliance).
Frequently Asked Questions (Patient & Clinical Guidance)
Q: What is the FAM20C gene Raine syndrome NGS test and why is it performed?
This advanced genetic analyzes the entire FAM20C gene via Next-Generation Sequencing to detect mutations causing Raine syndrome, a lethal osteosclerotic bone dysplasia with skin and immune complications.
هذا الاختبار الجيني المتقدم يحلل جين FAM20C كاملاً باستخدام تقنية التسلسل الجيني المتقدم لكشف الطفرات المسببة لمتلازمة رين، وهي خلل تنسج عظمي مميت مع مضاعفات جلدية ومناعية.
Q: How is the sample collected and is it painful?
A simple blood sample, DNA extraction, or a fingertip blood spot on an FTA card is collected by a certified phlebotomist with minimal discomfort.
يتم جمع عينة دم بسيطة، أو استخلاص الحمض النووي، أو بقعة دم من طرف الإصبع على بطاقة FTA بواسطة ممارس صحي معتمد بأقل انزعاج.
Q: What do the results mean for my family and future planning?
Results identify pathogenic or likely pathogenic variants in FAM20C, guiding genetic counseling and family risk assessment for inheritance pattern.
تحدد النتائج المتغيرات الممرضة أو المحتمل أنها ممرضة في جين FAM20C، مما يساعد في تقديم الاستشارة الوراثية وتقييم المخاطر الأسرية لنمط الوراثة.
This service is performed under Federal Decree‑Law No. 41 of 2024 on Genetic Testing, the UAE Child Protection (CDS) Law 2026 provisions for minors, and the UAE Personal Data Protection Law (PDPL). All samples and reports are handled confidentially. ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). Facility License: 9834453.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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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
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All reports reviewed by DHA-Certified physicians