Test Price
2,800 AED✅ Home Collection Available
PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
TRUST 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
PREMIUM VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
GUIDANCE Telephonic Post-Test Clinical Guidance for result interpretation by DHA-licensed specialists.
INSURANCE Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PEX5 gene test uses Next‑Generation Sequencing (NGS) to identify pathogenic variants in the PEX5 gene linked to peroxisome biogenesis disorder type 2B, a rare neurological condition within the Zellweger spectrum. This high‑resolution molecular analysis provides definitive diagnostic data for patients presenting with neurological, hepatic, and adrenal symptoms consistent with peroxisomal dysfunction. The test is performed in our ISO 9001:2015 accredited laboratory under strict quality control protocols.
| Feature | Our Test (NGS) | Closest Alternative (Targeted PCR) |
|---|---|---|
| Methodology | Next‑Generation Sequencing, full gene coverage | Sanger or PCR‑based single‑site analysis |
| Analytical Sensitivity | 99.9% (ISO‑verified) | ~95% (limited by targeted regions) |
| Turnaround Time | 3–4 Weeks | 2–4 Weeks (depending on lab) |
| Regulatory Compliance | DHA, MOHAP, UAE PDPL, ISO 9001:2015 | Variable |
| Specialist Collaboration | Neurologist, Clinical Geneticist, Medical Researcher | Often limited to external referral |
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) advises: "Genetic findings from the PEX5 test must be correlated with detailed clinical history, biochemical markers, and neuroimaging. A positive result establishes a molecular diagnosis but does not alone determine treatment urgency. I strongly recommend that every patient receives pre‑ and post‑test genetic counseling through a qualified clinical geneticist."
Advisory: Pre-Test Counseling & Informed Consent
All patients must complete a documented pre‑test genetic counseling session and sign an informed consent form prior to sample collection. This requirement aligns with Federal Decree‑Law No. 4 of 2016 on Medical Liability and DHA genetic testing regulations. Minors require parental or guardian consent. Test results should never be used as the sole basis for clinical decisions without correlation with biochemical and imaging data.
Exclusion Criteria & Emergency Red Flags
- This test is not a substitute for acute neurological assessment; if you experience sudden seizures, loss of consciousness, or severe developmental regression, seek emergency care immediately.
- Do not proceed with testing without a documented pre‑test genetic counseling session and signed informed consent.
- Exclusion: individuals who cannot provide a complete family pedigree or clinical history needed for accurate interpretation.
- Red Flags: jaundice, liver dysfunction, or adrenal insufficiency in a child suspected of Zellweger spectrum – these require urgent biochemical and specialist evaluation, not genetic testing alone.
- Specimen must be collected by a licensed phlebotomist; do not self‑collect blood or use unvalidated collection devices without cold‑chain logistics.
Patient FAQ & Clinical Guidance
1. What is the PEX5 gene test and what does it diagnose?
Snippet: This next‑generation sequencing test analyzes the entire PEX5 gene to identify mutations causing peroxisome biogenesis disorder type 2B, a rare inherited neurological condition. It provides high‑resolution data enabling definitive molecular diagnosis in suspected Zellweger spectrum cases. The test is offered with full DHA‑compliant genetic counseling.
2. Why should I choose this test in the UAE and how is it regulated?
Snippet: Our test is the only NGS‑based PEX5 analysis in the UAE fully compliant with DHA genetic testing regulations, ISO 9001:2015 certification, and Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL). It guarantees data privacy under UAE PDPL, includes physician‑supervised home collection, and connects directly to neurologists and clinical geneticists licensed by the DHA.
3. How should I prepare for the PEX5 genetic test?
Snippet: Prepare by attending a mandatory genetic counselling session to provide a detailed family history and pedigree chart; no fasting is required for blood draw. For home collection, schedule via WhatsApp at +971 54 548 8731, and a specialist will use a validated DNA whole blood kit with cold‑chain transport. Collection is available daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
This diagnostic service complies 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. All patient health data is encrypted, access‑controlled, and processed exclusively within the UAE jurisdiction. Clinical safety and consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. Regular audits ensure continuous alignment with DHA and MOHAP standards.
Clinical & Logistical Metadata
| Test Name | PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube) or Validated DNA Blood Kit |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene coding regions and intron-exon boundaries |
| ICD-10-CM Code | E71.5 |
| LOINC Code | 87809-3 |
| 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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