Test Price
2,800 AED✅ Home Collection Available
Prolidase Deficiency (PEPD) NGS Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This next-generation sequencing assay screens the entire coding region of the PEPD gene to detect pathogenic variants causing prolidase deficiency, a rare autosomal recessive disorder. The test delivers definitive molecular diagnosis with 99.9% analytical sensitivity and is processed in an ISO 9001:2015 accredited laboratory (Cert: INT/EGQ/2509DA/3139).
- ✓99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited processing.
- ✓Premium Home Collection – ISO‑certified cold‑chain transport and VIP mobile phlebotomy available daily 8 AM–11 PM.
- ✓Post‑Test Clinical Guidance – Telephonic interpretation with a Consultant Medical Geneticist.
- ✓Insurance Direct Billing – WhatsApp verification at +971 54 548 8731.
Price: 2800 AED
TAT: 3–4 Weeks
Sample: Blood, Dried Blood Spot (FTA), Extracted DNA
Test Overview & Methodology
The Prolidase Deficiency (PEPD) NGS test employs next-generation sequencing on an Illumina platform to screen all coding exons and flanking intronic regions of the PEPD gene. Clinically significant variants are confirmed via Sanger sequencing. This approach detects single-nucleotide variants, small insertions/deletions, and copy-number variants (CNVs) with >99.9% sensitivity, enabling accurate molecular diagnosis for patients presenting with dysmorphic features, intellectual disability, skin ulcers, recurrent infections, and elevated urinary iminodipeptides.
| Feature | Our Test (PEPD NGS) | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing with CNV detection; >99.9% sensitivity | Single‑variant PCR (limited to known mutations) |
| Methodology | NGS (Illumina platform) + Sanger confirmation | Sanger sequencing of selected exons |
| Turnaround | 3–4 weeks with comprehensive report | 4–8 weeks, often without deletion/duplication analysis |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics – DHA Registration ID: 9294403) states: “Prolidase deficiency exhibits a wide phenotypic spectrum, making molecular confirmation essential. NGS-based PEPD gene sequencing provides a conclusive diagnosis, but variant interpretation requires correlation with clinical features and biochemical markers. Patients should share complete medical and family history with the referring clinician to ensure results are integrated into a holistic management plan.”
Pre-Test Advisory
Mandatory Pre-Test Requirement: A genetic counselling session with a qualified counsellor is required before sampling. A pedigree chart documenting affected family members must be provided to the ordering clinician to guide variant interpretation and recurrence risk assessment.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile illness, recent blood transfusion within 4 weeks, inability to provide informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability, patient uncooperative for venipuncture.
- ER Red Flags: Severe allergic reaction to antiseptic or adhesive, uncontrolled bleeding at puncture site, syncope or vasovagal shock following sample collection.
Patient FAQ & Clinical Guidance
1. What is prolidase deficiency and why is genetic testing recommended?
Prolidase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in the PEPD gene. The NGS test detects disease-causing changes across the entire coding region, confirming the diagnosis with near-absolute certainty. Early molecular identification allows targeted medical management, developmental surveillance, and informed family planning for at-risk relatives.
2. How is the sample collected and what sample types are accepted?
A VIP mobile phlebotomist visits your home for a standard blood draw under ISO-certified cold-chain conditions, available daily from 8 AM to 11 PM. Alternative acceptable sample types include a dried blood spot on an FTA card or previously extracted DNA. All samples are transported to the DNA Labs UAE facility in Dubai Healthcare City for processing.
3. How quickly will I receive results and will a doctor explain them?
Results are delivered within 3 to 4 weeks from sample receipt. Every report includes a telephonic consultation with a Consultant Medical Geneticist who interprets the findings, discusses clinical implications, and answers your personal health questions. A written clinical report is also provided for your referring physician.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Framework
DNA Labs UAE operates under DHA Facility License Number 1143 and complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genetic data handling, storage, and sharing. Health information processing adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical consent and medical liability protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted, access-controlled, and never shared with third parties without explicit patient consent.
Clinical & Logistical Metadata
| Test Name | Prolidase Deficiency (PEPD) NGS Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Blood (EDTA), Dried Blood Spot (FTA Card), Extracted DNA |
| Methodology Used | Next-Generation Sequencing on Illumina Platform with Sanger Confirmation and CNV Analysis |
| ICD-10-CM Code | E70.89 |
| LOINC Code | 55231-0 |
| 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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