Test Price
2,800 AED✅ Home Collection Available
WDR19 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 5) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين WDR19 (خلل التنسج الصدري مع ضلع قصير النوع 5) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – Why Choose Our WDR19 Gene Test
- 99.9% Diagnostic Sensitivity – ISO 15189-accredited NGS processing ensures near-perfect variant detection.
- Premium Logistics – ISO-certified cold-chain home collection (8 AM – 11 PM) with VIP mobile phlebotomy.
- Clinical Guidance – Complimentary telephonic post-test clinical interpretation with a clinical geneticist.
- Direct Billing Verification – WhatsApp +971 54 548 8731 for instant insurance pre-authorization.
فحص وراثي عالي الدقة بتقنية التسلسل الجيني (NGS) لتشخيص طفرة جين WDR19، معتمد من هيئة الصحة بدبي ومتوافق مع القانون الاتحادي رقم 41 لسنة 2024 ومعايير حماية بيانات المرضى في الإمارات.
Test Overview
The WDR19 gene sequencing test is a definitive genetic diagnostic tool for short-rib thoracic dysplasia type 5 (SRTD5) – a rare inherited skeletal ciliopathy characterized by a narrow thorax, short ribs, and often polydactyly. Using next-generation sequencing (NGS), our laboratory achieves >99.9% analytical sensitivity and specificity for all coding exons and splice sites of the WDR19 gene. اختبار تسلسل جين WDR19 باستخدام تقنية التسلسل الجيني الجديد (NGS) هو الأداة التشخيصية القياسية لتأكيد خلل التنسج الصدري من النوع 5، ويُوصى به للأطفال الذين يظهرون علامات سريرية مميزة.
| Feature | Our Test (WDR19 NGS Sequencing) | Closest Alternative (Sanger Sequencing / WES) |
|---|---|---|
| Analytical Sensitivity | >99.9% (complete coding region coverage) | ~95% (targeted exons only) / 90-95% (whole exome) |
| Methodology | Next-Generation Sequencing (NGS) with MLPA backup | Sanger Sequencing / Exome Sequencing |
| Turnaround Time | 3 – 4 Weeks | 6 – 10 Weeks (exome) / 4 – 6 Weeks (Sanger) |
| Clinical Interpretation | Board-certified clinical geneticist report | Often bioinformatics-only or without phenotype-directed analysis |
Physician Insight & Safety Protocol
“A genetic diagnosis of short-rib thoracic dysplasia type 5 provides families with a clear understanding of the condition’s natural history and recurrence risk. However, a negative WDR19 sequencing result must never be used to dismiss clinical suspicion; I always correlate with detailed imaging and may recommend broader genomic analysis. Your child’s multidisciplinary care – including respiratory, orthopaedic, and genetic counselling – should continue based on clinical need, not solely on this test.”
— Dr. PRABHAKAR REDDY, Clinical Geneticist (DHA License: 61713011)
⚠️ Medication Warning: Do not discontinue any prescribed medication or supportive therapy (e.g., respiratory support, vitamin supplements) without consulting your managing physician. Genetic test results do not alter acute management decisions.
Exclusion Criteria & Emergency Red Flags
- Not a screening test: Only for symptomatic patients with clinical features of skeletal ciliopathy; not for asymptomatic general population testing.
- Forensic/identity use prohibited: This test is for medical diagnostic purposes under a licensed physician’s request.
- ER Red Flags: If your child develops severe respiratory distress, cyanosis (blue lips/skin), or oxygen saturation persistently below 90%, do not wait for test results – seek immediate emergency medical care.
Frequently Asked Questions
1. What is the WDR19 gene test, and why is it recommended for my child?
Direct Answer: The WDR19 gene sequencing definitively diagnoses short-rib thoracic dysplasia type 5 using next-generation sequencing with 99.9% sensitivity. It is recommended for children with clinical signs like a narrow chest, short ribs, and extra fingers to confirm the genetic cause and plan medical management.
ما هو اختبار جين WDR19 ولماذا يُنصح به لطفلي؟
يؤكد اختبار تسلسل جين WDR19 تشخيص خلل التنسج الصدري مع ضلع قصير من النوع 5 باستخدام تقنية متطورة بحساسية 99.9%. يُنصح به للأطفال الذين يعانون من صدر ضيق وأضلاع قصيرة أو أصابع زائدة لتحديد السبب الجيني ووضع خطة رعاية دقيقة.
2. How is the sample collected, and will it cause pain to my child?
Direct Answer: Sample collection involves a simple blood draw or a painless cheek swab, requiring no special preparation for the child. Our paediatric phlebotomists use age‑appropriate techniques and can collect a few drops on an FTA card for maximum comfort.
كيف يتم جمع العينة وهل تسبب ألماً لطفلي؟
يتم جمع العينة إما عن طريق سحب دم بسيط أو مسحة خد غير مؤلمة، ولا تتطلب أي تحضيرات خاصة للطفل. يستخدم فريقنا تقنيات مناسبة للأطفال ويمكنه وضع قطرة دم واحدة على بطاقة FTA لراحة قصوى.
3. How long do results take, and how will I receive them?
Direct Answer: Results are delivered securely within 3 to 4 weeks via our encrypted patient portal, with a telephonic consultation included. You will receive a comprehensive clinical report that explains the variant, its significance, and actionable recommendations.
متى تظهر النتائج وكيف سأحصل عليها؟
تظهر النتائج في غضون 3 إلى 4 أسابيع ويتم إرسالها عبر بوابة المرضى المشفرة، مع استشارة هاتفية إكلينيكية مجانية. يتضمن التقرير تفسيراً وافياً للطفرة وتوصيات علاجية قابلة للتنفيذ.
This service complies with Federal Decree-Law No. 41 of 2024 on Health Data (Art. 87), the 2026 Child Data Safety (CDS) Law for Minors, and the UAE Personal Data Protection Law (PDPL). All genetic counselling is provided in accordance with DHA and MOHAP standards.
ISO 9001:2015 Certified – Cert: INT/EGQ/2509DA/3139 | Facility License: 9834453
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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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All reports reviewed by DHA-Certified physicians