Test Price
2,800 AED✅ Home Collection Available
EIF2AK4 Gene Pulmonary Veno-Occlusive Disease Type 2 Genetic Test in UAE | 2,800 AED | DHA Licensed NGS Analysis
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing. Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM). Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialist in medical genetics. Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Lead Clinical Geneticist: Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Test Overview & Methodology
The EIF2AK4 Gene Pulmonary Veno-Occlusive Disease Type 2 Genetic Test is a definitive Next-Generation Sequencing assay that identifies pathogenic variants in the EIF2AK4 gene, confirming hereditary PVOD type 2. This test is essential for cardiologists, pulmonologists, and clinical geneticists in the UAE, offering rapid 3–4 week turnaround for early diagnosis and familial risk stratification.
| Feature | Our EIF2AK4 NGS Test (Precision DNA) | Closest Alternative (Standard Sanger Sequencing) |
|---|---|---|
| Methodology | High-coverage NGS (≥100×, Illumina platform) detecting SNVs, indels, and copy number variants | Sanger sequencing of selected exons; limited CNV detection |
| Clinical Sensitivity | 99.9% diagnostic yield for biallelic EIF2AK4 mutations | ~85% (misses large deletions/duplications) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics specialist, I emphasize that a genetic diagnosis of pulmonary veno-occlusive disease guides targeted management and avoids vasodilator-induced pulmonary edema. However, correlation with comprehensive clinical and hemodynamic evaluation is mandatory before initiating or modifying any therapeutic regimen.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Warning — Do Not Discontinue Prescribed Therapy Without Medical Consultation
Abrupt withdrawal of pulmonary vasodilators or other cardiac medications can precipitate acute right heart failure. Always discuss the implications of genetic test results with your treating specialist before making any changes to your medication regimen.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Samples collected without signed consent and pedigree; hemolyzed whole blood; degraded DNA; improper cold-chain handling.
- Emergency Red Flags: If the patient experiences severe dyspnea, syncope, chest pain, or hypotension after sample collection, seek immediate emergency medical attention. This test is not a substitute for urgent cardiopulmonary assessment.
- Minors: In compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability, genetic testing on minors mandates pre-test genetic counselling and explicit parental consent.
Patient FAQ & Clinical Guidance
1. What is the EIF2AK4 gene test used for in pulmonary veno-occlusive disease?
This NGS test scans the entire EIF2AK4 gene for inherited mutations that cause pulmonary veno-occlusive disease type 2, providing a definitive molecular diagnosis and guiding family screening for at-risk relatives.
2. What type of sample is required for this genetic test?
A standard peripheral whole blood sample is collected via VIP Mobile Phlebotomy or at our Dubai Healthcare City facility. The sample is processed using temperature-controlled cold-chain logistics to preserve DNA integrity for high-coverage NGS analysis.
3. How long does it take to receive results and how are they delivered?
Turnaround time is 3–4 weeks from sample receipt. Results are delivered via a secure clinical report with telephonic post-test guidance by our Consultant Medical Genetics specialist, ensuring proper interpretation of pathogenic variants and management recommendations.
4. Is genetic counselling mandatory before undergoing this test?
Yes, pre-test genetic counselling is mandatory. This session reviews family history, constructs a pedigree, and discusses implications of EIF2AK4 mutation detection to ensure informed consent and full compliance with UAE regulatory frameworks.
5. Does insurance cover the cost of this test in the UAE?
Coverage varies by insurer. Our team provides direct billing verification via WhatsApp at +971 54 548 8731. We recommend confirming your policy benefits prior to sample collection. Self-pay option at 2,800 AED is available for those without coverage.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Privacy: 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. All genetic data is encrypted, stored on UAE-based secure servers, and accessible only to authorized clinical personnel.
Medical Liability & Patient Consent: Clinical testing safety and informed consent protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring full transparency and patient autonomy throughout the diagnostic journey.
Laboratory Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). DHA Facility License Number: 1143.
Clinical & Logistical Metadata
| Test Name | EIF2AK4 Gene Pulmonary Veno-Occlusive Disease Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | High-coverage Next-Generation Sequencing (NGS) on Illumina platform; ≥100× depth; detection of SNVs, indels, and CNVs in EIF2AK4 |
| ICD-10-CM Code | I27.89, Z13.83 |
| LOINC Code | 81321-9 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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