Test Price
2,800 AED✅ Home Collection Available
PEX2 Gene Sequencing (Zellweger Syndrome) – NGS Genetic Test in Dubai
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity & Specificity (ISO 15189:2012 Accredited).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
Clinical Guidance: Post-Test Telephonic Interpretation by a DHA-Licensed Consultant Medical Genetics.
Insurance & Billing: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PEX2 gene NGS test detects pathogenic variants causing Zellweger syndrome, a severe peroxisomal biogenesis disorder. This targeted analysis provides comprehensive coverage of the PEX2 coding region, exon-intron boundaries, and deep intronic regions, enabling early diagnosis, precise family planning, and accurate risk assessment for associated neurological and metabolic abnormalities.
| Feature | Our PEX2 NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | 100% targeted coverage of PEX2 coding, exon-intron boundaries, and deep intronic regions | Variable coverage; may miss deep intronic or low-coverage regions |
| Methodology | Next‑Generation Sequencing (Illumina® platform) with MLPA backup for CNV detection | Broad exome capture; often requires orthogonal confirmation for reported variants |
| Turnaround Time | 3 – 4 Weeks | 5 – 6 Weeks |
| Clinical Utility | Focused exclusively on Zellweger spectrum; clear, concise interpretation | Incidental findings may require extensive secondary analysis |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that the PEX2 NGS panel provides a high diagnostic yield for Zellweger spectrum disorders. However, given the clinical variability and genetic heterogeneity of peroxisomal biogenesis diseases, results must be interpreted alongside biochemical markers such as very-long-chain fatty acids (VLCFA) levels and a comprehensive family pedigree. Post-test genetic counselling is mandatory to fully address recurrence risks and implications for immediate family members.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
⚠️ Important: Do not discontinue or alter any prescribed medication without explicit consultation with your treating physician. This genetic test is a diagnostic aid and does not replace clinical judgement or emergency medical care.
Patient Safety: Exclusion Criteria & Emergency Red Flags
Exclusion Criteria: Pregnant individuals must consult their obstetrician before providing a blood sample. Patients with acute febrile illness, active infection, or those who have received a blood transfusion within the past 8 weeks may require rescheduling to avoid compromised results.
Emergency Red Flags: Sudden neurological deterioration, intractable seizures, loss of consciousness, or severe metabolic acidosis require immediate emergency medical intervention. Do not wait for genetic test results to seek emergency care. All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the PEX2 NGS test?
The PEX2 gene encodes a peroxisomal biogenesis factor. Pathogenic variants disrupt peroxisome assembly, leading to Zellweger syndrome. This single-gene test sequences the entire PEX2 coding region, detecting point mutations, small insertions or deletions, and copy number variations. Results provide definitive diagnosis, prognosis, and recurrence risk assessment for families.
2. What type of sample is required for the PEX2 genetic test?
A standard peripheral whole blood sample (3-5 ml in an EDTA tube) is required. DNA Labs UAE also accepts high-quality extracted DNA specimens. Our white-glove home collection service utilizes a hospital-grade phlebotomy kit with temperature-controlled cold-chain logistics. The total turnaround time from sample receipt to final clinical report is 3 to 4 weeks.
3. How does DNA Labs UAE ensure the confidentiality of my genetic data?
All genetic data is strictly protected under 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. Reports are encrypted end-to-end, shared exclusively with the ordering physician and the patient, and stored on regulated healthcare servers within the UAE. DNA Labs UAE is fully ISO 9001:2015 certified.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: DNA Labs UAE strictly complies with all applicable UAE federal laws governing healthcare data and genetic testing. Patient diagnostic information is processed and stored in accordance 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 Governance: All laboratory procedures are conducted under the regulatory oversight of the Dubai Health Authority (DHA). Our quality management system adheres to international standards, including ISO 15189:2012 for medical laboratories, ensuring the highest levels of diagnostic accuracy and patient safety.
Clinical & Logistical Metadata
| Test Name | PEX2 Gene Sequencing (Zellweger Syndrome) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks (21 – 28 Days) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or High-Quality Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina® Platform with Sanger Confirmation & MLPA for CNV Detection |
| ICD-10-CM Code | E71.510 |
| LOINC Code | 23862-2 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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