Test Price
2,800 AED✅ Home Collection Available
PREPL Gene Hypotonia‑Cystinuria Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PREPL لمتلازمة نقص التوتر والبيلة السيستينية في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – ضمان الجودة والموثوقية
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity – processed in our ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139). ضمان الدقة: 99.9% حساسية تشخيصية بمعالجة معتمدة من ISO.
- Premium Logistics: Hospital‑Grade Cold‑Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 11 PM) – كل عينة محفوظة في سلسلة تبريد معتمدة.
- Clinical Guidance: Complimentary Telephonic Post‑Test Result Interpretation by a genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 – التحقق من التأمين عبر واتساب.
Test Overview
The PREPL Gene NGS Test is a targeted next‑generation sequencing assay that identifies pathogenic variants in the PREPL gene – the definitive cause of hypotonia‑cystinuria syndrome, a recessive disorder combining severe muscular hypotonia, cystinuria (renal stones), and endocrine anomalies. This test delivers precise molecular diagnosis, enables carrier detection, and informs reproductive risk.
| Feature | Our PREPL Gene NGS Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for PREPL variants | ~98% – broader but may miss deep intronic variants |
| Methodology | NGS with Sanger confirmation, targeted panel | Whole Exome Sequencing, incidental findings possible |
| Turnaround Time / Cost | 3‑4 Weeks | 2800 AED | 8‑12 Weeks | 4500‑6000 AED |
Physician Insight & Safety Protocol – ملاحظات الطبيب وإجراءات السلامة
“I understand that pursuing a genetic diagnosis can be emotionally challenging. A positive PREPL finding requires careful clinical correlation with your specialist, as variants of uncertain significance can occur. Never stop any prescribed medication or supplement without first consulting your managing physician – especially if you or your child are on treatment for hypotonia, seizures, or metabolic issues.”
— Dr. PRABHAKAR REDDY, DHA Lic. 61713011
Safety Exclusion Criteria & Red Flags
- Do not use this test as a sole diagnostic tool; it must be interpreted alongside clinical evaluation and family history.
- This test is not intended for prenatal diagnosis without prior genetic counselling and informed consent (as per UAE Federal Decree‑Law No. 41 of 2024, Art. 87).
- If the patient experiences sudden worsening of hypotonia, seizures, respiratory distress, or failure to thrive, seek emergency medical care immediately – risk of metabolic decompensation.
Frequently Asked Questions – الأسئلة الشائعة
1. What is the PREPL gene test and why is it performed?
This NGS test screens the PREPL gene for mutations causing hypotonia‑cystinuria syndrome, providing a definitive molecular diagnosis that directs treatment and family planning.
هذا التحليل يفحص طفرات جين PREPL المسؤولة عن متلازمة نقص التوتر والبيلة السيستينية، مما يتيح تشخيصاً جزيئياً دقيقاً وتوجيه العلاج والتخطيط الأسري.
2. How is the sample collected and what is the TAT?
A certified phlebotomist will collect a small blood sample (or a painless FTA card spot) during a home visit; results are ready in 3‑4 weeks with secure online delivery.
يُجمع العينة بواسطة فني معتمد في منزلك (دم كامل أو بطاقة FTA) وتظهر النتائج خلال 3‑4 أسابيع عبر تقرير إلكتروني آمن.
3. Are the results reliable and legally recognised in the UAE?
Yes, the is processed under ISO 9001:2015 standards and complies with DHA/MOHAP regulations, making it admissible for medical records and insurance claims.
نعم، الفحوصات تُجرى وفق معايير ISO 9001:2015 وتتماشى مع لوائح هيئة الصحة بدبي ووزارة الصحة، مما يضمن قبولها في الملفات الطبية والتأمينية.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
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
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians