Test Price
6,600 AED✅ Home Collection Available
Wilson Disease ATP7B Gene Mutation Detection Test in UAE | 6600 AED | DHA Licensed
Executive Summary & Core Metrics
The ATP7B gene mutation detection test delivers definitive molecular confirmation of Wilson disease with 99.9% diagnostic sensitivity. Accredited under ISO standards, the assay utilises PCR amplification and Sanger sequencing – the gold standard for genetic variant identification. Results are delivered with a comprehensive clinical interpretation report within 2 months from sample receipt.
- ✓ Accuracy Guarantee: 99.9% Analytical Sensitivity & Specificity
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection
- ✓ Clinical Guidance: Telephonic Post-Test Result Interpretation by Expert Genetic Consultant
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The Wilson Disease ATP7B Gene Mutation Detection Test is a definitive genetic assay that identifies pathogenic variants in the ATP7B gene, confirming the diagnosis of Wilson disease with absolute molecular certainty. This test is essential for symptomatic patients presenting with hepatic or neurological manifestations and for presymptomatic screening of at-risk family members.
| Feature | Our Genetic Test (ATP7B) | Closest Alternative (Biochemical Markers) |
|---|---|---|
| Precision | 99.9% analytical sensitivity & specificity for ATP7B mutations | Variable; ceruloplasmin & urinary copper may be falsely low/high in inflammation or pregnancy |
| Methodology | PCR Amplification & Sanger Sequencing (Gold Standard) | Nephelometry, colorimetric assays |
| Result Turnaround | Report within 2 months (definitive genetic confirmation) | Same day (screening only, often requires genetic follow-up) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the profound implications of a Wilson disease diagnosis. This test offers molecular clarity, enabling precise therapeutic decisions and informed family counseling. It is vital to interpret the genetic result alongside clinical and biochemical evaluations.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory
Do not discontinue any prescribed medication for Wilson disease (e.g., penicillamine, trientine, zinc) without first consulting your treating physician. This test provides diagnostic confirmation and does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Incorrect sample type or tube; hemolyzed or clotted blood
- Sample volume less than 2 mL (minimum required: 4 mL in lavender-top EDTA tube)
- Sample received frozen (must be refrigerated, never frozen)
- Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
Seek Emergency Care Immediately If You Experience:
- Sudden severe jaundice or hepatic encephalopathy
- Uncontrolled seizures, dystonia, or acute psychiatric symptoms
- Severe abdominal pain with vomiting and coagulopathy
Patient FAQ & Clinical Guidance
1. What is the ATP7B gene test used for?
The ATP7B gene mutation test detects inherited genetic variants causing Wilson disease, a copper metabolism disorder. It confirms diagnosis in symptomatic individuals and enables early presymptomatic detection in family members, allowing timely intervention to prevent irreversible organ damage.
2. How should I prepare for this test?
No special fasting or medication changes are required. You need only provide a 4 mL blood sample. Ensure the Genomics Clinical Information Requisition Form (Form 20) is completely filled by your referring physician and accompany the refrigerated lavender-top EDTA tube.
3. What do the results mean for my family?
A positive mutation indicates an increased risk for siblings and offspring, warranting immediate genetic counseling and screening. First-degree relatives have a 25% chance of carrying the same mutation and should undergo testing.
4. How long does it take to get results?
The turnaround time is up to 2 months from sample receipt. This duration accounts for the comprehensive Sanger sequencing analysis and thorough clinical interpretation required for a definitive molecular diagnosis.
5. Is home sample collection available?
Yes, VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM. Our trained phlebotomists follow strict ISO standards for sample handling and transport.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic data is processed in strict 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. Patient consent for genetic testing and data handling is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. No genetic information is shared with third parties without explicit written authorization.
Accreditation: DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and holds DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | Wilson Disease ATP7B Gene Mutation Detection |
| Price (AED) | 6,600 |
| Turnaround Time | Up to 2 months from sample receipt |
| Sample Type / Matrix | Whole Blood (4 mL lavender-top EDTA tube) |
| Methodology Used | PCR Amplification & Sanger Sequencing |
| ICD-10-CM Code | E83.01 (Wilson disease) |
| LOINC Code | 21636-0 (ATP7B gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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