Test Price
2,800 AED✅ Home Collection Available
PREPL Gene Cystinuria NGS Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Dedicated telephonic post-test counselling to interpret your molecular results in the context of clinical symptoms and family history.
- Insurance & Billing: Direct insurance verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PREPL Gene Cystinuria NGS Test is a targeted Next-Generation Sequencing assay that detects pathogenic mutations in the PREPL gene associated with hypotonia-cystinuria syndrome, a rare autosomal recessive metabolic disorder characterized by cystine kidney stones and generalized muscle weakness. Definitive molecular diagnosis enables personalised clinical management, dietary prophylaxis, and informed family planning.
Pre-Test Requirements
A detailed three-generation pedigree chart documenting family members affected by hypotonia, cystinuria, or unexplained nephrolithiasis must be provided. A mandatory pre-test genetic counselling session is required to discuss the scope, limitations, and implications of NGS-based carrier and diagnostic testing. No dietary or drug restrictions are necessary before sample collection.
| Feature | Our Test (NGS PREPL Gene) | Closest Alternative (Sanger Single-Exon) |
|---|---|---|
| Methodology | Next-Generation Sequencing (full gene, all exons ± copy number variation analysis) | Sanger sequencing of one targeted exon |
| Detection Rate | Greater than 99% of pathogenic variants including large deletions and duplications | Approximately 60% (misses deep intronic and structural variants) |
| Turnaround Time | 21–28 Working Days | 8–12 Weeks (if custom primer design is required) |
Physician Insight & Safety Protocols
"Genetic results from the PREPL test provide powerful diagnostic clarity, yet they must always be interpreted alongside clinical examination and detailed family history. A positive finding confirms the molecular diagnosis of hypotonia-cystinuria syndrome, but a negative result does not exclude all genetic causes. My role is to ensure you understand every implication before and after testing."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Important Clinical Guidance
Do not discontinue, adjust, or initiate any prescribed medication, dietary supplement, or therapeutic regimen without explicit consultation with your managing physician. Genetic test results may influence treatment decisions, but any changes must be supervised by a qualified healthcare professional.
Exclusion Criteria & Urgent Red Flags
- Acute febrile illness or active infection at the time of sample collection may delay the blood draw.
- Recent blood transfusion or haematopoietic stem cell transplant within the past 90 days may cause donor DNA interference.
- Inability to provide informed consent; for minors, a legal guardian's written consent is mandatory as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- If you experience sudden severe flank pain, complete inability to urinate, or persistent vomiting suggestive of an obstructing kidney stone, proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is the PREPL gene cystinuria genetic test?
This test uses Next-Generation Sequencing technology to analyze your DNA for mutations in the PREPL gene, which are linked to hypotonia-cystinuria syndrome, a rare condition that combines cystine kidney stones with low muscle tone.
2. Who should consider this test?
Individuals with a personal or family history of cystinuria accompanied by low muscle tone, unexplained kidney stones in childhood, or a known family variant in the PREPL gene are ideal candidates. Carrier testing for at-risk family members is also available.
3. How is the test performed and what is the turnaround time?
A standard peripheral whole blood sample is collected by a certified phlebotomist through our VIP Mobile Phlebotomy service. Results are typically available within 21 to 28 working days from sample receipt at the laboratory.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that all genetic and clinical data are processed, stored, and transmitted under strict confidentiality and security controls. Additionally, the laboratory adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which governs the secure handling of electronic health records and telemedicine interactions. The DHA Facility License Number 1143 authorizes these services within Dubai Healthcare City.
Clinical & Logistical Metadata
| Test Name | PREPL Gene Cystinuria NGS Sequencing Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Working Days |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Sequencing with CNV Analysis |
| ICD-10-CM Code | E72.0 |
| LOINC Code | 81260-9 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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