Test Price
2,800 AEDโ Home Collection Available
PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM โ 11 PM daily).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by certified genetic counsellors.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PEX5 gene NGS test analyses the entire coding region of the PEX5 gene to identify pathogenic variants causing peroxisome biogenesis disorder type 2A (Zellweger spectrum). This test aids in confirming a clinical diagnosis, guiding management, and enabling accurate genetic counselling for families.
| Feature | Our PEX5 NGS Test | Closest Alternative |
|---|---|---|
| Precision / Coverage | Full gene sequencing (exons ยฑ flanking intronic regions) via NGS; detects single nucleotide variants, small indels, and copy number variations | Single-gene Sanger sequencing; limited to known hotspots, may miss large deletions |
| Methodology | NGS (Next Generation Sequencing) with bioinformatic analysis compliant with ACMG guidelines | Sanger sequencing; lower throughput, manual variant interpretation |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Regulatory Compliance | DHA/MOHAP licensed (Facility License 1143); ISO 9001:2015 certified; UAE PDPL compliant | Varies; often lacks local DHA accreditation |
Physician Insight & Safety Protocols
โAt DNA Labs UAE, we understand the profound implications of a genetic diagnosis for peroxisomal disorders. This test offers precise molecular evidence for PBD type 2A, but results must always be integrated with metabolic and neurological evaluations. A negative test does not rule out other peroxisomal diseases. Genetic counseling is essential for families.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory & Exclusion Criteria
Do not alter prescribed medications without consulting your doctor. Some treatments can influence metabolic profiles; always inform your physician about this test.
Red Flags Requiring Immediate Medical Attention:
- Acute metabolic crisis or suspected neonatal adrenoleukodystrophy demands emergency care โ do not wait for genetic results.
- This test is not a substitute for newborn screening or urgent metabolic evaluation.
- Severe hepatic dysfunction or coagulopathy requires venipuncture risk assessment before collection.
- Sudden neurological deterioration, unresponsive seizures, or severe hypotonia require immediate in-person evaluation.
Clinical testing safety and patient consent are performed in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What does the PEX5 gene test diagnose?
This NGS test identifies mutations in the PEX5 gene responsible for peroxisome biogenesis disorder type 2A, a severe inherited condition within the Zellweger spectrum that causes progressive neurological deterioration, liver dysfunction, and distinctive facial features from infancy.
2. How should I prepare for the PEX5 genetic test?
A mandatory pre-test genetic counselling session is required to discuss your personal and family medical history, draw a pedigree chart, and obtain informed consent. You may provide a blood sample (EDTA whole blood), extracted DNA, or a dried blood spot on an FTA card without dietary restrictions.
3. Is the PEX5 test covered by insurance in the UAE?
Insurance coverage depends on your policy and clinical necessity. Our team verifies benefits directly with your provider via WhatsApp +971 54 548 8731 and offers transparent self-pay pricing at 2800 AED with itemised receipts for reimbursement claims.
UAE Regulatory & Data Privacy Adherence
All genetic testing 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. Your data is encrypted endโtoโend.
Clinical & Logistical Metadata
| Test Name | PEX5 Gene NGS Test โ Peroxisome Biogenesis Disorder Type 2A |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) โ Full gene coding region analysis |
| ICD-10-CM Code | E71.5 (Disorders of peroxisome biogenesis) |
| LOINC Code | 21685-0 (Gene mutation detection in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | License #1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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