Test Price
2,800 AED✅ Home Collection Available
ATP2A2 Gene NGS Test for Acrokeratosis Verruciformis (Darier Disease) in Dubai, UAE
Executive Summary & Core Metrics
Executive Summary – ATP2A2 Gene Sequencing
- Accuracy Guarantee: 99.9% analytical sensitivity via ISO 15189 and ISO 9001:2015 accredited NGS processing.
- Premium Logistics: Hospital‑grade VIP Mobile Phlebotomy with temperature‑controlled cold‑chain transport, available daily 8 AM–11 PM across all UAE emirates.
- Clinical Guidance: Complimentary post‑test telephonic interpretation by a DHA‑licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731; response within 30 minutes.
- Test Price: 2,800 AED inclusive of kit, home collection, NGS library preparation, bioinformatics, signed clinical report, and 30‑minute post‑result teleconsultation.
- Turnaround Time: 3–4 weeks from sample receipt to final signed report.
- Laboratory: DNA Labs UAE – DHA Facility License No. 1143, Dubai Healthcare City.
- Regulatory Compliance: UAE PDPL (Federal Decree‑Law No. 45 of 2021) and Federal Law No. 2 of 2019 for health ICT.
Test Overview & Methodology
Clinical Context: ATP2A2 and Darier Disease
Darier disease is an autosomal dominant genodermatosis caused by loss‑of‑function mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum calcium ATPase SERCA2. Defective calcium signalling in keratinocytes leads to acrokeratosis verruciformis lesions, nail abnormalities, and mucosal changes. Our next‑generation sequencing test interrogates all coding exons, intron‑exon boundaries, and selected deep intronic regions of ATP2A2, providing definitive molecular confirmation for probands, at‑risk relatives, and prenatal planning.
| Feature | ATP2A2 NGS Test | Alternative Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full coding region, splice sites, and CNV detection | Single‑amplicon PCR with capillary electrophoresis; limited to known hotspot exons |
| Turnaround Time | 3–4 weeks | 2–3 weeks but restricted to predefined regions |
| Variant Detection Scope | All exonic and splice variants, intragenic copy‑number alterations, and selected deep intronic changes | Only targeted exons; may miss large deletions, duplications, or unexpected variants |
| Sample Types Accepted | Whole blood (EDTA), dried blood spot on FTA card, or extracted genomic DNA | Whole blood or extracted DNA |
CNV analysis is included at no additional cost when ordered with the standard NGS workflow.
Physician Insight & Safety Protocols
“ATP2A2 sequencing offers high diagnostic yield for Darier disease, yet the clinical presentation can vary widely even among family members carrying the same mutation. A thorough dermatological examination, pedigree analysis, and review of histopathological findings are essential to contextualise the genetic result. Patients should always discuss therapeutic options — including retinoids and laser modalities — with their treating dermatologist before making any management changes.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, alter, or initiate any prescription treatment — including oral retinoids, topical corticosteroids, or immunomodulators — solely on the basis of a genetic finding. All therapeutic decisions must be coordinated with your managing dermatologist after a comprehensive clinical evaluation.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide informed consent (for adults; minors require both parents or legal guardians to co-sign).
- Exclusion: Allogeneic bone marrow transplant recipient — donor‑derived haematopoietic DNA may confound germline analysis.
- Exclusion: Active chemotherapy or whole‑blood transfusion within the last 14 days (may compromise DNA integrity; use FTA card or extracted DNA stored before treatment if available).
- Emergency: If you experience severe anxiety, suicidal ideation, or acute psychological distress after receiving your genetic results, proceed to the nearest emergency department or call UAE ambulance on 998 immediately.
Patient FAQ & Clinical Guidance
1. What does the ATP2A2 NGS test detect and how reliable is it?
Direct Answer: This test sequences all coding exons, flanking splice junctions, and selected deep intronic regions of the ATP2A2 gene with 99.9% analytical sensitivity. It identifies pathogenic, likely pathogenic, and variants of uncertain significance associated with Darier disease (acrokeratosis verruciformis). The assay covers missense, nonsense, frameshift, splice‑site mutations, and intragenic copy‑number alterations. A negative result reduces the probability of classical Darier disease by more than 98%; all variant interpretations follow ACMG/AMP guidelines and are validated by a DHA‑licensed consultant medical geneticist.
2. Is home sample collection available across all emirates and how is my DNA protected?
Direct Answer: Yes. Our trained phlebotomists perform hospital‑grade VIP Mobile Phlebotomy from 8 AM to 11 PM daily anywhere in the UAE. Samples are transported using ISO‑certified cold‑chain logistics and processed under anonymised identifiers. Your genetic data is encrypted and stored in compliance with UAE Personal Data Protection Law (Federal Decree‑Law No. 45 of 2021) and Federal Law No. 2 of 2019 concerning health information and communication technology. No third‑party disclosure occurs without explicit re‑consent; incidental findings are reported only when clinically actionable and authorised by the patient.
3. Will my health insurance cover the 2,800 AED cost and what does the package include?
Direct Answer: Many UAE health insurance plans with outpatient genetic testing benefits partially or fully reimburse the 2,800 AED fee. We provide a detailed medical necessity letter to facilitate approval. The package includes the collection kit, VIP home phlebotomy, NGS library preparation, bioinformatics analysis, a signed clinical report with ACMG/AMP classifications, and a 30‑minute post‑result teleconsultation with a DHA‑licensed medical geneticist. For direct billing inquiries, contact our insurance team via WhatsApp at +971 54 548 8731; we verify coverage within 30 minutes.
4. Can this test be used for prenatal or preimplantation genetic diagnosis?
Direct Answer: Yes. Once a pathogenic ATP2A2 variant has been confirmed in a proband, the test can be applied to prenatal (amniotic fluid or chorionic villus sampling) and preimplantation genetic testing (PGT‑M) workflows. These applications require prior coordination with a reproductive genetics team and are performed under the same ISO 15189 accredited protocols. Please contact our clinical genetics service to initiate the referral process.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic information is processed and stored in full 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.
- Clinical Safety & Consent: Patient safety, informed consent, and medical liability follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Accreditation: DNA Labs UAE holds ISO 15189 (medical laboratory quality) and ISO 9001:2015 (quality management system) accreditation, ensuring audit‑ready traceability and data integrity.
- Confidentiality: Genomic data is encrypted, access‑controlled, and never shared with third parties without explicit, written re‑consent from the patient or legal guardian.
Clinical & Logistical Metadata
| Test Name | ATP2A2 Gene NGS Test – Acrokeratosis Verruciformis (Darier Disease) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted Genomic DNA – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coding & Splice Site Analysis with CNV Detection |
| ICD-10-CM Code | Q82.8 |
| LOINC Code | 94222-8 |
| 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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