Test Price
2,800 AED✅ Home Collection Available
PREPL Gene Hypotonia‑Cystinuria Syndrome Genetic Test | 2800 AED | DHA Licensed Laboratory in Dubai
Executive Summary & Core Metrics
Accuracy Guarantee, Premium Logistics & Clinical Oversight
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity – processed in our ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – Available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary Telephonic Post‑Test Result Interpretation by a genetic counsellor following the consultation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
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. The methodology employs targeted NGS with orthogonal Sanger confirmation for all clinically significant variants, ensuring 99.9% sensitivity for coding and splice‑site regions.
| 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 Protocols
“I recognise that pursuing a genetic diagnosis can be emotionally and psychologically demanding. A positive PREPL finding requires careful clinical correlation with your specialist, as variants of uncertain significance may arise. Never discontinue any prescribed medication or supplement without first consulting your managing physician – especially if you or your child are on therapy for hypotonia, seizures, or metabolic anomalies. Our team ensures that every result is reviewed by a consultant medical geneticist before final reporting.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Cautionary Guidance
- 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 required by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- If the patient experiences sudden worsening of hypotonia, seizures, respiratory distress, or failure to thrive, seek emergency medical care immediately – risk of metabolic decompensation.
Safety Exclusion Criteria & Red Flags
- Patients with acute metabolic crisis or unstable respiratory status should not undergo elective blood draw until stabilised.
- Individuals with known bleeding disorders or on anticoagulant therapy require prior haematology clearance for venipuncture.
- This test is not validated for somatic variant detection or tumour profiling; it is strictly a germline diagnostic assay.
Patient FAQ & Clinical Guidance
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. It is recommended for individuals presenting with unexplained hypotonia, recurrent renal stones, and endocrine disturbances suggestive of the syndrome.
2. How is the sample collected and what is the turnaround time?
A certified phlebotomist will collect a small blood sample (EDTA whole blood) or a painless FTA card spot during a scheduled home visit. Results are ready within 3‑4 weeks and delivered via a secure online portal with a detailed clinical interpretation report.
3. Are the results reliable and legally recognised in the UAE?
Yes, the test is processed under ISO 9001:2015 standards and complies with DHA and MOHAP regulations, making it admissible for medical records and insurance claims. All reports are signed by a consultant medical geneticist and include variant classification per ACMG guidelines.
4. What does the price include and are there any hidden costs?
The price of 2800 AED covers the full NGS analysis, Sanger confirmation of all reported variants, a comprehensive genetic counselling session, and a secure digital report. There are no hidden fees; direct billing and insurance verification are handled upfront.
5. Can this test detect carriers and inform reproductive planning?
Yes, the test accurately identifies carrier status for hypotonia‑cystinuria syndrome. If both parents are carriers, there is a 25% recurrence risk in future pregnancies. Genetic counselling is strongly advised before and after testing to discuss reproductive options including preimplantation genetic diagnosis.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law. All genetic and personal information is handled in strict compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our facility maintains ISO 9001:2015 certification and follows DHA‑mandated standards for genetic testing, ensuring your results remain confidential and secure.
Clinical & Logistical Metadata
| Test Name | PREPL Gene Hypotonia‑Cystinuria Syndrome Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3‑4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card |
| Methodology Used | Targeted NGS with Sanger Confirmation |
| ICD‑10‑CM Code | E72.01 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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