Test Price
2,800 AED✅ Home Collection Available
RBM8A Gene Thrombocytopenia‑Absent Radius Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين RBM8A لمتلازمة نقص الصفيحات وانعدام الكعبرة في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary | الملخص التنفيذي
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
- Premium Logistics: Paid Hospital‑Grade Home Collection – ISO‑Certified Cold‑Chain & VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- ضمان الدقة: حساسية تشخيصية 99.9% عبر معالجة بتقنية التسلسل الجيني المتقدم (NGS) ومعتمدة من ISO.
- الخدمات اللوجستية المتميزة: خدمة سحب منزلي بمستوى المستشفيات مع سلسلة تبريد معتمدة من ISO وفصادة دم متنقلة لكبار الشخصيات.
- الإرشاد السريري: استشارة هاتفية بعد الاختبار لتفسير النتائج سريرياً.
- التأمين: التحقق المباشر من تغطية التأمين عبر واتساب +971 54 548 8731.
Test Overview & Clinical Positioning
The RBM8A gene Thrombocytopenia‑Absent Radius (TAR) Syndrome NGS test is a definitive molecular diagnostic assay designed to detect pathogenic variants in the RBM8A gene, confirming TAR syndrome in patients with thrombocytopenia and bilateral radial aplasia. يقوم هذا التحليل بتأكيد الطفرات المسببة لمتلازمة نقص الصفيحات وانعدام الكعبرة.
| Feature | Our RBM8A NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Technology | Next-Generation Sequencing (NGS) | Sanger Sequencing (single‑gene) |
| Coverage | 100% coding region ±20 bp intron boundaries | Limited to few exons; risk of missing deep intronic variants |
| Sensitivity | >99.9% for SNVs, indels ≤3 bp | ~95–98% for targeted regions |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED | Often >3200 AED |
Physician Insight & Clinical Safety
“As a physician deeply involved in genetic diagnostics, I know the emotional weight a TAR syndrome test carries for families. A positive result must be integrated with platelet counts, skeletal imaging, and a thorough pedigree; a negative result doesn’t erase clinical suspicion. Always correlate molecular findings with your specialist before any life‑altering decision.” — Dr. PRABHAKAR REDDY, DHA License 61713011
Medication Warning
Do not discontinue any prescribed medication, especially anti‑thrombotic or immunosuppressive agents, without consulting your treating physician. This genetic test is intended for diagnostic confirmation and does not replace ongoing clinical management.
Exclusion Criteria & Urgent Red Flags
- Sample Exclusion: Inadequate sample volume, hemolyzed or clotted blood, recent allogeneic blood transfusion (may interfere with germline DNA interpretation).
- Patient Preparation: Genetic counseling is mandatory before sample collection; a pedigree chart of affected family members is highly recommended.
- Emergency Red Flags: If the patient develops acute severe bleeding (petechiae, mucosal haemorrhage), sudden limb deformity, or signs of sepsis, seek immediate emergency care – do not wait for test results.
Frequently Asked Questions
What is the RBM8A gene test used for?
This test identifies pathogenic variants in the RBM8A gene to confirm a diagnosis of Thrombocytopenia‑Absent Radius syndrome, a rare inherited disorder affecting blood platelets and limb development. It aids in early intervention, familial risk assessment, and reproductive planning.
كيف يتم إجراء تحليل جين RBM8A؟
يتم سحب عينة دم بسيطة (أو بطاقة FTA) بواسطة ممرض متنقل، ثم يُستخلص الحمض النووي وتُحلَّل الجينات بتقنية التسلسل الجيني المتقدم (NGS) في مختبر معتمد من ISO خلال 3 إلى 4 أسابيع.
What do my results mean?
A 'Pathogenic' or 'Likely Pathogenic' variant confirms the molecular diagnosis of TAR syndrome, guiding immediate hematology and orthopedic follow‑up. A 'Negative' result does not exclude the condition if clinical suspicion remains high, as rare non‑coding variants or gene‑gene interactions could be responsible.
دعم ثنائي اللغة متاح
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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