Test Price
2,800 AED✅ Home Collection Available
EPAS1 Gene Erythrocytosis (Familial Type 4) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: >99.9% analytical sensitivity and specificity via ISO 9001:2015 accredited Next-Generation Sequencing.
- Sample Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates.
- Clinical Support: Telephonic post-test genetic counselling and result interpretation by a Consultant Medical Geneticist.
- Insurance & Billing: Direct billing verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test analyses the entire EPAS1 gene using Next-Generation Sequencing (NGS) on the Illumina NovaSeq platform to detect germline mutations responsible for familial erythrocytosis type 4. Full gene coverage including multi-exon deletion and duplication analysis enables identification of novel variants that alternative methods may miss.
Pre-Test Requirements
- Detailed clinical history including prior hematological events and family history of erythrocytosis.
- Mandatory genetic counselling session to construct a pedigree chart of family members affected with EPAS1-related erythrocytosis.
- Acceptable specimens: Whole Blood (2–5 mL in EDTA tube), Extracted DNA, or one drop of blood on FTA Card.
Method Comparison
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage, CNV detection, >99.9% sensitivity | Targeted mutation analysis only, may miss novel variants |
| Method | NGS (Illumina NovaSeq) with multi-exon deletion/duplication | Capillary electrophoresis, limited variant detection |
| Speed | 3–4 Weeks | 2–3 Weeks (incomplete picture) |
| Cost | 2800 AED | ~1500 AED (limited clinical utility) |
Physician Insight & Safety Protocols
"Genetic confirmation of EPAS1-related erythrocytosis provides definitive clarity for patients and their families. While the test demonstrates exceptional analytical sensitivity, results must be interpreted alongside hematocrit levels, oxygen saturation measurements, and a thorough family pedigree to guide clinical management effectively."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not alter or discontinue any prescribed therapy, including anticoagulants or phlebotomy regimens, without prior consultation with your treating physician. This genetic test result is intended to complement, not replace, ongoing clinical judgment and treatment plans.
Safety Exclusion Criteria & Emergency Red Flags
- Acute febrile illness or active infection on the day of sample collection.
- Known severe anemia or bleeding disorder not disclosed prior to phlebotomy.
- Therapeutic anticoagulation without prior written consent from the treating physician.
- Minors must be accompanied by a legal guardian; guardian consent is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Seek immediate emergency care if you experience: sudden severe headache, blurred vision, chest pain, shortness of breath, or unusual bleeding or swelling at the puncture site after sample collection.
Patient FAQ & Clinical Guidance
1. What is the EPAS1 genetic test used for?
This test identifies germline mutations in the EPAS1 gene that cause familial erythrocytosis type 4, a condition characterized by elevated red blood cell mass. Accurate diagnosis enables targeted management, family screening, and risk stratification for thromboembolic complications.
2. How accurate is the test and what methodology is used?
The test utilizes Next-Generation Sequencing on the Illumina NovaSeq platform with >99.9% analytical sensitivity and specificity for EPAS1 variants. Full gene coverage including intronic regions and copy number variation detection ensures comprehensive results that Sanger sequencing alone cannot provide.
3. How is the sample collected and what logistics are available?
Sample collection requires 2–5 mL of whole blood in an EDTA tube, extracted DNA, or a single drop on an FTA card. DNA Labs UAE provides VIP Mobile Phlebotomy with temperature-controlled cold-chain transport across all emirates daily from 8 AM to 11 PM, ensuring specimen integrity from collection to analysis.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with UAE federal data protection and healthcare information security frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and storage of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating digital health information systems and telehealth practices.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — ensuring patient safety, informed consent, and professional accountability in clinical testing.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) — validating quality management across laboratory operations.
Clinical & Logistical Metadata
| Test Name | EPAS1 Gene Erythrocytosis (Familial Type 4) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq) with CNV detection |
| ICD-10-CM Code | D75.0, D75.1, Z15.89 |
| LOINC Code | 82939-0 |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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