Test Price
2,800 AED✅ Home Collection Available
TBCE Gene Hypoparathyroidism‑Retardation‑Dysmorphism (HRD) Syndrome Genetic Test in UAE
AED 2800 · 2026 DHA Guidelines
تحليل جين TBCE لمتلازمة قصور الدريقات والتخلف العقلي والتشوهات الخلقية باستخدام تكنولوجيا التسلسل الجيني من الجيل التالي (NGS) في الإمارات2800 درهم · معتمد من هيئة الصحة بدبي
Executive Summary & Trust Signals
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next‑Generation Sequencing (NGS) Laboratory Processing.
- Premium Logistics: Paid Hospital‑Grade Home Collection with ISO Certified Cold‑Chain and VIP Mobile Phlebotomy service, available 8 AM–11 PM daily.
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance by DHA‑licensed endocrinologists/geneticists to support result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ضمان دقة تشخيصية بنسبة 99.9% عبر معالجة معتمدة من ISO 9001:2015، مع خدمة سحب منزلي متميزة وإرشاد طبي بعد التحليل لضمان أفضل رعاية وفق معايير هيئة الصحة بدبي.
Overview
The TBCE gene HRD syndrome NGS test sequences the entire coding region of the TBCE gene, detecting pathogenic variants responsible for the rare autosomal recessive Sanjad‑Sakati syndrome. This analysis provides definitive molecular confirmation for patients presenting with hypoparathyroidism, developmental delay, and distinct facial dysmorphism, enabling precise family counselling and early endocrine management.
تحليل تسلسل الجين TBCE الكامل يوفر تأكيداً جزيئياً دقيقاً لمتلازمة سنجد-سكاتي النادرة، مما يساعد في التشخيص المبكر والاستشارة الوراثية.
Why Our Test Leads
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | NGS + confirmatory Sanger | Single‑gene Sanger only |
| Diagnostic Yield | >99% sensitivity for point mutations & small indels | Limited to selected exons; may miss deep intronic changes |
| Turnaround | 3–4 Weeks | 5–6 Weeks |
| Price | AED 2800 | AED 3200 (estimated) |
Physician Insight & Safety Protocol
“This comprehensive test offers families clarity when facing a suspected HRD syndrome. A positive result confirms the molecular basis and directs endocrine replacement; a negative result, however, must be correlated with clinical findings – it does not exclude other genetic or metabolic disorders. Always integrate laboratory data with the complete phenotype.” – Dr. PRABHAKAR REDDY, DHA License 61713011, Consultant Endocrinologist.
⚠ Medication Advisory: Do not discontinue prescribed calcium, vitamin D, or any other medication without consulting your treating physician. Abrupt changes can precipitate severe hypocalcaemic events.
Exclusion Criteria & Safety Red Flags
- Unable to provide a blood sample or buccal swab due to extreme agitation or medical contraindication.
- Recent blood transfusion (<3 weeks) affecting DNA purity.
- Current unstable cardiac or respiratory condition requiring emergency intervention.
🚨 Seek Emergency Care Immediately if you or the child develop: seizures, tetany, muscle spasms, stridor, loss of consciousness, or significant mental status changes – these may indicate life‑threatening hypocalcaemia.
Patient FAQ & Clinical Guidance
What is the TBCE gene HRD syndrome test?
This test analyzes the entire TBCE gene coding sequence using next-generation sequencing to identify disease-causing variants linked to Sanjad‑Sakati syndrome, providing a definitive molecular diagnosis for hypoparathyroidism, intellectual disability, and dysmorphic features. The result aids in predicting disease course and planning tailored endocrine therapy.
ما هو تحليل جين TBCE لمتلازمة HRD؟ يقوم التحليل بفحص كامل الشيفرة الوراثية لجين TBCE باستخدام تقنية التسلسل من الجيل التالي لتحديد الطفرات المسببة للمرض.
How is the sample collected for this genetic?
A DHA-licensed phlebotomist performs a painless home blood draw or collects a few drops of blood on an FTA card, adhering strictly to cold-chain protocols to guarantee DNA integrity. No fasting is required, and the procedure is suitable for children with appropriate parental consent.
كيف تُسحب العينة لهذا الفحص الجيني؟ يقوم فني مختص مرخص من هيئة الصحة بدبي بسحب عينة دم منزلية بسيطة أو باستخدام بطاقة FTA مع الحفاظ على سلسة تبريد مثالية.
How long do results take, and what support is provided afterward?
Results are delivered within 3 to 4 weeks, accompanied by a comprehensive laboratory report and a scheduled telehealth session with a DHA-licensed endocrinologist or genetic counsellor for interpretation. Urgent findings are communicated within 48 hours, ensuring timely clinical decisions.
متى تظهر النتائج وما الدعم بعدها؟ تظهر النتائج خلال 3 إلى 4 أسابيع مع جلسة استشارة هاتفية مع أخصائي لتفسير التقرير، وتُبلّغ النتائج العاجلة خلال 48 ساعة.
Licensed by DHA and MOHAP under facility license 9834453. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). UAE PDPL and Federal Decree‑Law No. 41 of 2024 (Art. 87) compliant. All DNA testing in minors requires explicit legal guardian consent per CDS Law 2026.
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.
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All reports reviewed by DHA-Certified physicians