Test Price
2,800 AED✅ Home Collection Available
PEX12 Gene Zellweger Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✈ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – 8 AM to 11 PM.
- 📋 Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a certified genetic counsellor.
- 💰 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the PEX12 gene to identify pathogenic variants associated with Zellweger syndrome, a severe peroxisomal biogenesis disorder. It is the definitive molecular diagnostic tool for confirmation of clinical suspicion and for carrier screening in families, delivering results in 3 to 4 weeks with 99.9% analytical sensitivity.
| Feature | Our Test (PEX12 NGS) | Closest Alternative (Single Exon Sequencing) |
|---|---|---|
| Methodology | NGS (Illumina platform, 100% coverage) | Sanger sequencing of selected exons |
| Diagnostic Yield | >99% detection of all variant types | ~60-70% (misses deep intronic/copy number variants) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Reporting | In-depth variant classification (ACMG) & correlation | Limited to presence/absence of known mutations |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasize that a negative PEX12 NGS panel does not exclude the diagnosis of a peroxisomal disorder; clinical correlation with very long-chain fatty acid profiles and neuroimaging remains paramount. Every genetic result must be interpreted within the full clinical picture, and families should receive compassionate, multi-disciplinary counsel.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication and Clinical Context
Critical Clinical Advisory
Do not discontinue any prescribed medication or modify treatment based solely on this test result without consulting your managing physician. This genetic test complements but does not replace ongoing clinical care.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Children under 18 years of age must have informed consent from a legal guardian as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Recent allogeneic blood transfusion (within 14 days) may affect DNA purity; reschedule after 4 weeks.
- Emergency Red Flags: If the patient develops acute hypotonia, intractable seizures, severe hepatomegaly, or sudden loss of developmental milestones, seek immediate emergency care; do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. What is the PEX12 genetic test used for?
This test definitively identifies DNA mutations in the PEX12 gene causing Zellweger spectrum disorder, enabling early intervention and family planning decisions.
2. How is the sample collected and when will I receive my results?
A certified mobile phlebotomist collects a small blood sample (or dried blood spot) at your home; results are delivered securely within 3 to 4 weeks.
3. Is genetic counselling included in this service?
Yes, a pre-test genetic counselling session to draw a detailed family pedigree is mandatory; post-test telephonic counselling with a clinical geneticist is included.
UAE Regulatory & Data Privacy Adherence
This 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. Patient data is processed with strict confidentiality and security measures.
Clinical & Logistical Metadata
| Test Name | PEX12 Gene Zellweger Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or dried blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform |
| ICD-10-CM Code | E71.510 (Zellweger syndrome) |
| LOINC Code | 98228-7 (PEX12 gene sequencing) |
| 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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