Test Price
2,800 AED✅ Home Collection Available
ATP6V0A2 Gene Sequencing for Autosomal Recessive Cutis Laxa Type 2A | 2800 AED | DHA Licensed in Dubai
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing
- Premium Logistics: Paid VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for Result Interpretation by DHA‑Licensed Specialist
- Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731
Genetic sequencing of the ATP6V0A2 gene for definitive diagnosis of autosomal recessive cutis laxa type 2A. Comprehensive NGS analysis with Sanger confirmation ensures accurate variant detection. Pre‑ and post‑test genetic counselling included with every test order.
Test Overview & Methodology
Clinical Context
This advanced NGS test analyzes the ATP6V0A2 gene, providing definitive diagnosis for autosomal recessive cutis laxa type 2A with 99.9% sensitivity. The ATP6V0A2 gene encodes a subunit of the vacuolar ATPase complex, crucial for Golgi and lysosomal function. Pathogenic variants impair cellular trafficking, leading to elastic fiber deficiency in the skin and lungs. Early molecular confirmation enables proactive surveillance for pulmonary complications such as emphysema and pneumothorax, which are common in affected individuals. Genetic counselling prior to testing is mandatory to ensure informed consent and to discuss implications for extended family members.
| Feature | Our ATP6V0A2 Test | Closest Alternative (Clinical Diagnosis) |
|---|---|---|
| Methodology | NGS with Sanger Confirmation | Physical Exam & Family History |
| Turnaround Time | 3–4 Weeks | Immediate but Non‑Definitive |
| Sensitivity | >99.9% | Variable (May Miss Atypical Forms) |
| Genetic Counselling | Included (Pre‑ & Post‑Test) | Not Standard |
| Cost (AED) | 2,800 | N/A (Repeated Consultations) |
Physician Insight & Safety Protocols
“Cutis laxa type 2A is a rare connective tissue disorder that demands molecular confirmation for accurate prognosis and family counselling. ATP6V0A2 sequencing delivers definitive results, guiding pulmonary surveillance and surgical planning for inguinal hernias or joint complications. I always counsel families that a positive result opens the door to targeted management and recurrence risk assessment for future pregnancies. The integration of pre‑test counselling ensures that patients fully understand the scope and limitations of genetic testing before proceeding.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics
DHA License Registration ID: 9294403
Advisory: Medication Continuation
Do not discontinue any prescribed medication or alter your treatment plan without consulting your physician. This genetic test does not replace your current clinical management. Continue all pulmonary, cardiac, or supportive therapies as directed by your specialist.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This test is not suitable for individuals with uncontrolled acute infections, those unable to provide informed consent, or minors without legal guardian consent as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability. Pre‑test genetic counselling is compulsory.
- Emergency Red Flags: If you experience sudden shortness of breath, sharp chest pain, or suspected pneumothorax, seek immediate emergency medical attention. These may indicate severe pulmonary involvement associated with cutis laxa.
Patient FAQ & Clinical Guidance
1. What is ATP6V0A2 gene testing and who should consider it?
ATP6V0A2 genetic testing diagnoses autosomal recessive cutis laxa type 2A, confirming loose skin and joint hypermobility. It is recommended for any individual presenting with congenital wrinkled, redundant skin, joint laxity, and a family history of early‑onset emphysema. Carrier testing is also valuable for family planning. The test identifies biallelic pathogenic variants in the ATP6V0A2 gene, providing a definitive molecular diagnosis that guides clinical management and recurrence risk counselling.
2. How is the test performed and what is the turnaround time?
A peripheral whole blood sample is collected at your home or office via our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. The blood is transported under temperature‑controlled cold‑chain logistics to our ISO‑accredited lab. NGS sequencing followed by Sanger confirmation provides accurate results in three to four weeks. We also accept extracted DNA or dried blood spot on an FTA card. Pre‑test genetic counselling is scheduled before sample collection to ensure informed consent.
3. What do the results mean and how will they affect my healthcare?
Positive results confirm cutis laxa type 2A, enabling surveillance for lung disease and genetic counselling. A positive report indicates biallelic pathogenic variants in ATP6V0A2, confirming the diagnosis. This directs clinical management towards regular pulmonary function tests, echocardiography, and connective tissue specialist follow‑up. Negative results may necessitate testing for other cutis laxa genes such as FBLN4 or FBLN5. Our telephonic post‑test guidance explains the implications for you and your family, including recurrence risks and surveillance recommendations.
4. Is pre‑test genetic counselling mandatory and what does it involve?
Yes, pre‑test genetic counselling is mandatory before ATP6V0A2 sequencing can proceed. This session, conducted by our DHA‑licensed Consultant Medical Genetics, covers the purpose of the test, possible results (positive, negative, or variant of uncertain significance), implications for family members, and limitations of the analysis. You will have the opportunity to ask questions and provide informed consent as required under Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under UAE law. DNA Labs UAE complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring your genetic information is collected, stored, and processed with the highest standards of confidentiality and security. All clinical data handling follows Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing that electronic health records and diagnostic results are transmitted through encrypted, audited channels. Patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, which mandates that all genetic testing be preceded by informed consent and pre‑test counselling. Your data is never shared with third parties without explicit written authorization. We are DHA‑licensed (Facility Number: 1143) and ISO 9001:2015 accredited, subjecting our laboratory to regular inspections and compliance audits.
Clinical & Logistical Metadata
| Test Name | ATP6V0A2 Gene Sequencing for Autosomal Recessive Cutis Laxa Type 2A |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q82.8 |
| LOINC Code | 94805-5 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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