Test Price
2,800 AEDโ Home Collection Available
PEX14 Gene Zellweger Syndrome Genetic Test in UAE | 2800 AED | DHA Guidelines
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity โ ISO 9001:2015 Certified Processing
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AMโ11 PM Daily)
Telephonic Post-Test Genetic Counseling by DHA-Licensed Consultant
Direct Insurance Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The PEX14 Gene Zellweger Syndrome Genetic Test uses Next-Generation Sequencing (NGS) to analyze the entire coding region and flanking intronic boundaries of the PEX14 gene. This approach detects single-nucleotide variants, small insertions/deletions, and copy-number alterations critical for diagnosing peroxisome biogenesis disorders within the Zellweger spectrum. Results are interpreted in accordance with ACMG/AMP guidelines and correlated with clinical findings for definitive molecular diagnosis.
| Feature | DNA Labs UAE (DHA-Certified) | Closest Alternative |
|---|---|---|
| Technology | Next-Generation Sequencing (NGS), full gene coverage | Targeted mutation panel / Sanger (limited loci) |
| Turnaround Time | 3โ4 Weeks | 4โ8 Weeks (often incomplete analysis) |
| Clinical Depth | Comprehensive variant interpretation with genetic counselling | Limited phenotype correlation |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics licensed by the Dubai Health Authority (DHA 9294403), I emphasize that the PEX14 gene test provides definitive molecular evidence for Zellweger syndrome, but results must be integrated with full clinical and family history. This test empowers families with accurate reproductive risk assessment and enables early supportive care planning. Genetic counseling before and after testing is essential for informed decision-making.โ โ Lina Osama Zaki Quteineh
Medication Advisory & Patient Safety
โ Medication Advisory: Do not discontinue any prescribed medications, including anti-epileptics or supportive therapies, without consulting your treating physician. Abrupt changes may destabilize the patientโs clinical condition.
Exclusion & Emergency Red Flags
Patient Safety & Exclusion Criteria
- Exclusion: This test is not recommended for individuals who have undergone hematopoietic stem cell transplantation within the last 6 months, as donor DNA may interfere with results.
- Exclusion: Patients for whom a definitive diagnosis can be established via biochemical (VLCFA) and enzyme assays alone do not require NGS as a first-line test.
- Emergency Red Flags: If the patient develops acute neurological deterioration, intractable seizures, or loss of consciousness, proceed immediately to the nearest emergency department. Do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the PEX14 gene test for Zellweger syndrome, and can it miss any mutations?
The test achieves 99.9% diagnostic sensitivity by sequencing all coding exons and flanking regions, detecting single-nucleotide variants, small insertions/deletions, and copy-number changes within the PEX14 gene. However, deep intronic variants or large structural rearrangements not covered by NGS may require additional assays.
2. What sample types are accepted, and is home collection available in Dubai and Abu Dhabi?
We accept whole blood (EDTA tube), extracted DNA, or dried blood spot (FTA card). Home collection by DHA-licensed phlebotomists is available across all Emirates from 8 AM to 11 PM with ISO-certified cold-chain transport.
3. Will my genetic data be protected under UAE privacy laws, and can I request data deletion?
All samples and genomic data are de-identified, encrypted, and stored in compliance 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. You retain the absolute right to request permanent data erasure after report delivery.
4. How long does it take to receive the test report?
The turnaround time is 3โ4 weeks from sample receipt. Urgent requests may be expedited upon request, subject to clinical justification and additional charges.
5. Is genetic counseling included with this test?
Yes, a telephonic post-test consultation is provided by a DHA-licensed Consultant Medical Genetics to explain results and guide clinical management. Pre-test counseling is also available upon request.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Patient Rights
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA Facility License: 1143). All clinical procedures and data handling adhere to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 concerning health information technology, and Federal Decree-Law No. 4 of 2016 on Medical Liability. Patient data is encrypted, access-controlled, and never shared without explicit consent. You have the right to access, rectify, or permanently delete your genetic data at any time.
Clinical & Logistical Metadata
| Test Name | PEX14 Gene Zellweger Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coverage including intronic boundaries |
| ICD-10-CM Code | E71.510 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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