Test Price
2,800 AEDโ Home Collection Available
ATP7B Gene Wilson Disease Genetic Test in UAE โ 2,800 AED โ DHA Licensed
Executive Summary & Core Metrics
Local Patient Guarantee & Diagnostic Assurance
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Next Generation Sequencing (NGS).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM โ 11 PM) available daily.
- Clinical Guidance: Complimentary telephonic post-test counselling with a certified genetic counsellor for result interpretation.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The ATP7B NGS test thoroughly screens for pathogenic variants in the ATP7B gene, confirming a diagnosis of Wilson diseaseโa rare autosomal recessive disorder of copper metabolism. This advanced sequencing analysis is critical for identifying asymptomatic siblings, confirming ambiguous biochemical results, and enabling life-saving pre-symptomatic chelation therapy or liver transplant planning.
| Diagnostic Feature | Our Test: ATP7B NGS | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Diagnostic Precision | Ultra-Deep NGS >99.9% Sensitivity | Targeted ~95% for common exons |
| Methodology | Illumina NovaSeq / MGI DNBSEQ | Capillary Electrophoresis |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Variant Spectrum | Full Gene: SNVs, Indels, CNVs | Limited Exon Sequencing Only |
Physician Insight & Safety Protocols
"Confirming a molecular diagnosis of Wilson disease through ATP7B sequencing is a pivotal step in preventing irreversible hepatic and neurological decline. I guide families through the transition from a genetic finding to a tailored treatment plan, ensuring that copper chelation or zinc therapy is initiated safely and that all at-risk relatives are offered cascade screening." โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Therapeutic Advisory & Medication Safety
Critical Medication Continuation
Patients currently prescribed chelation therapy (e.g., D-penicillamine, trientine) or zinc acetate should never discontinue treatment without explicit physician approval. Abrupt cessation can precipitate acute liver failure or irreversible neurological deterioration. This genetic test is intended to guide long-term management, not replace emergency medical care.
Exclusion Criteria & Patient Safety Red Flags
Absolute Contraindications for Elective Genetic Testing
- Immediate Hospitalisation Required: Active hemodynamic instability or acute liver failure with ICU admission โ emergency stabilization takes priority over elective genomic analysis.
- Mandatory Pre-Test Step: A formal genetic counselling session must be completed to construct a three-generation pedigree and document all family members affected by Wilson disease. Buccal swab collection is recommended over FTA cards if sample transit exceeds 72 hours.
- Emergency Warning Signs (Proceed to ER immediately): New-onset jaundice with abdominal distension, unexplained dystonia or dysarthria, or signs of hemolytic anemia. Do not wait for genetic results before seeking urgent care.
Patient FAQ & Clinical Guidance
1. Is this DNA test necessary to confirm Wilson disease, or can a liver biopsy suffice?
A liver biopsy quantifies hepatic copper content, but genetic testing provides a definitive, non-invasive diagnosis by identifying causative ATP7B mutations in over 99.9% of cases. This eliminates the need for invasive procedures and is the preferred method for screening asymptomatic family members.
2. Both my children are asymptomatic; why should they be tested?
Early genomic screening identifies pre-symptomatic inheritance, allowing immediate prophylactic zinc therapy to prevent irreversible liver and neurological damage. Cascade testing of all first-degree relatives is the standard of care for autosomal recessive disorders like Wilson disease.
3. What genetic methodology do you use, and why is the turnaround time three to four weeks?
Our protocol employs LC-MS/MS validated Next Generation Sequencing (NGS) on Illumina NovaSeq or MGI DNBSEQ platforms for comprehensive coverage of all exons and intron-exon boundaries. The 3โ4 week timeline ensures robust library preparation, high-depth sequencing, and rigorous bioinformatic analysis with variant classification per ACMG guidelines.
UAE Regulatory & Data Privacy Adherence
Legal & Regulatory Compliance: This service strictly adheres to 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The facility is certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and operates under DHA/MOHAP Standard Nomenclature. All logistics are handled by licensed paramedics with cold-chain verification.
Clinical & Logistical Metadata
| Test Name | ATP7B Gene Wilson Disease Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Buccal Swab |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina NovaSeq / MGI DNBSEQ |
| ICD-10-CM Code | E83.01 |
| LOINC Code | 94351-3 |
| DHA Facility License & Laboratory Address | License No: 1143 | DNA Labs UAE โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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