Test Price
2,800 AED✅ Home Collection Available
PEX1 Gene (Zellweger Syndrome) Genetic Test in Dubai | 2,800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015 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: Telephonic Post-Test Clinical Guidance with result interpretation by our DHA-licensed genetics specialists.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Core Clinical Utility: This advanced DNA test screens the complete coding region of the PEX1 gene using Next-Generation Sequencing (NGS) to identify pathogenic variants causing peroxisomal biogenesis disorders within the Zellweger spectrum. Results enable definitive molecular diagnosis, carrier detection, and recurrence risk assessment for at-risk family members.
Test Overview & Methodology
This comprehensive genetic analysis employs NGS to sequence all coding exons and flanking intronic regions of the PEX1 gene, with Sanger confirmation of clinically significant variants. The test detects single nucleotide variants, small insertions/deletions, and copy number changes responsible for Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease within the peroxisomal biogenesis disorder spectrum.
| Feature | Our Test (Genetic NGS) | Closest Alternative (Biochemical/Sanger Panel) |
|---|---|---|
| Analytical Sensitivity | >99.9% coverage of PEX1 coding exons | ~85% (limited by gene coverage & VLCFA sensitivity) |
| Turnaround Time | 3–4 Weeks (direct single-test workflow) | 4–8+ Weeks (sequential reflex testing) |
| Methodology | NGS with Sanger validation of all significant variants | Very long-chain fatty acids panel + single-gene Sanger sequencing |
| Clinical Utility | Direct genetic diagnosis, carrier screening & family planning | Biochemical suspicion only; requires genetic confirmation |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognize the critical importance of definitive molecular diagnosis for rare peroxisomal disorders. This NGS-based PEX1 gene analysis offers comprehensive coverage of disease-causing variants, enabling accurate carrier detection and informed family planning. Pre- and post-test genetic counselling remains essential for understanding autosomal recessive inheritance patterns and recurrence risks.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Important Notice: Do not discontinue any prescribed medication or therapy without consulting your treating physician. This genetic test is a diagnostic aid and does not replace urgent medical care or ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Acute life-threatening symptoms such as intractable seizures, respiratory distress, or severe metabolic acidosis – seek immediate emergency department care; genetic testing is not for acute crisis evaluation.
- Inability to provide informed consent; for minors, legal guardian consent is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Inadequate pre-test genetic counselling – a three-generation pedigree chart and clinical history must be documented before sample collection.
- Unsuitable sample including hemolyzed blood, clotted specimens, or degraded DNA – such samples will be rejected and recollection arranged at no additional charge.
Red Flags – If the patient develops sudden neurological deterioration, worsening seizures, or unexplained bleeding, do not wait for test results. Proceed directly to the nearest hospital emergency department.
Patient FAQ & Clinical Guidance
1. What is the PEX1 gene Zellweger syndrome NGS test?
This test uses next-generation sequencing to analyze the entire PEX1 gene, detecting pathogenic mutations that cause Zellweger spectrum disorders with more than 99% coverage of all coding regions. It identifies sequence variants and small copy number changes responsible for peroxisomal biogenesis disorders.
2. Why is genetic counselling required before taking this test?
Pre-test genetic counselling ensures you fully understand the possible outcomes, autosomal recessive inheritance pattern, and recurrence risks for future pregnancies. It also allows documentation of a three-generation pedigree chart, which is essential for accurate variant interpretation and family risk assessment.
3. How long does it take to get results and what sample is needed?
Results are typically available within 3 to 4 weeks from receipt of a suitable whole blood sample at our ISO-certified laboratory. Extracted DNA or FTA card specimens are also accepted. The laboratory will notify you immediately if the sample is insufficient or degraded.
4. Can this test detect all forms of peroxisomal biogenesis disorders?
This test specifically analyzes the PEX1 gene, which accounts for approximately 60% of Zellweger spectrum disorder cases. If clinical suspicion remains high after a negative result, reflex testing of additional PEX genes may be recommended by your genetics specialist.
5. Is home sample collection available for this genetic test?
Yes, a certified phlebotomist can collect your blood sample at home via our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. The specimen is transported under temperature-controlled cold-chain conditions to preserve DNA integrity for sequencing.
UAE Regulatory & Data Privacy Adherence
This service is fully compliant 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 testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operations hold ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operate under DHA Facility License No. 1143. WhatsApp support is available daily from 8 AM to 11 PM: +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | PEX1 Gene (Zellweger Syndrome) Genetic Test – NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (preferred), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Validation |
| ICD-10-CM Code | E71.510 |
| LOINC Code | 93277-8 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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