Test Price
2,800 AED✅ Home Collection Available
ATP6V0A2 Gene Wrinkly Skin Syndrome Genetic Test in UAE – 2800 AED – ISO 9001:2015 NGS Assay
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015‑certified Next‑Generation Sequencing with CNV analysis.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection, available daily from 8 AM to 11 PM across all Emirates.
Clinical Guidance: Telephonic post‑test result interpretation with a DHA‑licensed Consultant Medical Genetics.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ATP6V0A2 Gene Wrinkly Skin Syndrome Genetic Test is a high‑throughput Next‑Generation Sequencing assay that screens the entire ATP6V0A2 gene for pathogenic variants associated with wrinkly skin syndrome, an autosomal recessive disorder characterized by wrinkled, lax skin, delayed fontanelle closure, and distinctive facial features. This ISO 9001:2015‑certified assay detects single‑nucleotide variants, small insertions/deletions, and large copy‑number variants (CNVs). Results provide definitive molecular confirmation for symptomatic individuals and carrier status assessment for family planning.
| Feature | Our NGS Panel | Standard Sanger Test |
|---|---|---|
| Technology | Next‑Generation Sequencing with CNV analysis | Targeted Sanger sequencing |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Detection Rate | >99% for point mutations and large deletions/duplications | ~70–85% (misses deep intronic/copy‑number variants) |
| Sample Type | Blood, DNA FTA Card, Extracted DNA | Blood or DNA |
| Price | 2800 AED | ~3500–4000 AED |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Variable |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (DHA Registration ID: 9294403) – Consultant Medical Genetics – “Interpreting a single‑gene sequencing result requires correlation with clinical findings, pedigree analysis, and functional data. A negative result does not exclude all genetic etiologies, and a variant of uncertain significance demands cautious counseling. This test is a powerful diagnostic tool when used as part of a comprehensive evaluation by a clinical geneticist.”
Advisory for Safe Testing
Medication Warning: Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Signals
- Patients currently hospitalized in an intensive care unit (ICU) are excluded from home collection.
- Individuals unable to provide informed consent without a legal guardian cannot be enrolled.
- Active systemic infection that contraindicates phlebotomy postpones the collection.
🚨 Seek emergency care immediately if after sample collection you experience:
- Sudden severe skin blistering or widespread rash
- Difficulty breathing, facial swelling, or signs of anaphylaxis
Patient FAQ & Clinical Guidance
1. What is the ATP6V0A2 gene and how does this test help diagnose wrinkly skin syndrome?
The ATP6V0A2 gene encodes a subunit of the vacuolar ATPase proton pump essential for proper glycosylation and skin elasticity. Pathogenic mutations cause wrinkly skin syndrome, an autosomal recessive disorder. This NGS test screens the entire gene for point mutations, small indels, and large CNVs, providing definitive genetic confirmation to guide management and recurrence risk counseling.
2. How is the sample collected and is home collection available in the UAE?
A standard blood draw, DNA FTA card fingerstick, or extracted DNA sample is collected by a DHA‑licensed phlebotomist at your home through our VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection service, available daily from 8 AM to 11 PM across all Emirates. No fasting is required; providing a clinical history and a genetic counseling pedigree chart is recommended.
3. Does health insurance in the UAE cover the 2800 AED cost for this genetic test?
Coverage varies by policy and insurer. We verify your insurance benefits via WhatsApp before sample collection to ensure financial clarity. Many UAE insurance plans cover genetic testing for diagnostic purposes when medically necessary and pre‑authorized. Contact us at +971 54 548 8731 to submit your policy details for direct billing verification.
UAE Regulatory & Data Privacy Adherence
This clinical service and all associated processing fully comply 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 consent and clinical safety are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data is processed within a secure, confidential framework. ISO 9001:2015 Certification: INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | ATP6V0A2 Gene Wrinkly Skin Syndrome Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Blood, DNA FTA Card, Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | Q82.8 |
| LOINC Code | 21665-9 |
| DHA Facility License & Laboratory Address | Facility License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians