EPOR Gene Erythrocytosis, Familial Type 1 Genetic Test in UAE | 2,800 AED | DNA Labs UAE

Name: EPOR Gene Erythrocytosis, Familial Type 1 Genetic Test
Brand: DNA Labs UAE
SKU: DX-LAB-3294
Price: 2800 AED
Availability: InStock

Executive Summary & Core Metrics

Delivering 99.9% diagnostic accuracy through ISO 9001:2015 certified processing, the EPOR Gene Erythrocytosis, Familial Type 1 Genetic Test employs next-generation sequencing (NGS) to detect gain-of-function mutations in the erythropoietin receptor gene. VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM for peripheral whole blood specimens. A post-result telephone consultation with a genetics specialist is included for comprehensive result interpretation. Insurance verification and direct billing can be arranged via WhatsApp at +971545488731.

Test Overview & Methodology

This test uses next-generation sequencing to analyze the full coding and splice-site regions of the EPOR gene, providing a definitive molecular diagnosis of primary familial and congenital polycythemia (familial erythrocytosis type 1). It reliably distinguishes inherited erythrocytosis from secondary causes and myeloproliferative neoplasms, enabling tailored management and cascade family screening. The high-depth sequencing protocol achieves 99.9% sensitivity for known pathogenic and novel variants.

Key Referring Specialists

Hematologist – confirmation of familial erythrocytosis and differential diagnosis from polycythemia vera
Medical Geneticist – genetic counselling and family cascade screening for inherited EPOR variants
Sports Medicine Physician – evaluation of unexplained elevated hematocrit in athletes to distinguish genetic trait from blood doping

Feature	Our Test (NGS)	Closest Alternative (Targeted Genotyping)
Method	Next-Generation Sequencing (full coding & splice-site regions)	PCR + Sanger sequencing of selected exons
Variant Detection	99.9% for known pathogenic and novel mutations	~95% for predefined hotspot mutations only
Turnaround Time	21–28 days	14–21 days

Physician Insight & Safety Protocols

Clinical Note from Lina Osama Zaki Quteineh, Consultant Medical Genetics — DHA Registration ID: 9294403: EPOR gene results must always be correlated with full blood counts, clinical history, and a three-generation family pedigree. A positive mutation confirms hereditary erythrocytosis but does not equate to a malignant hematologic disorder; patients still require lifelong monitoring, individualized phlebotomy targets, and periodic cardiovascular risk assessment. Please share all prior complete blood counts, serum erythropoietin levels, and abdominal imaging for an integrated evaluation before initiating family counselling.

Important Safety Advisory

⚠ Medication Advisory

Do not discontinue any prescribed medication, including antiplatelet agents or phlebotomy schedules, without consulting your treating physician. Any adjustment to therapy must be made under the supervision of a specialist familiar with your complete medical profile.

Exclusion Criteria & Emergency Red Flags

Recent acute thrombotic event (deep vein thrombosis or pulmonary embolism) or active bleeding within the past 30 days
Severe anemia (hemoglobin < 8 g/dL) or uncontrolled hypertension (> 180/110 mmHg) at the time of blood draw
Seek immediate emergency care if you experience: sudden severe headache, visual disturbances, chest pain, or acute shortness of breath

Patient FAQ & Clinical Guidance

1. What is the purpose of the EPOR genetic test?

The NGS-based EPOR mutation analysis definitively diagnoses familial erythrocytosis type 1 by detecting gain-of-function variants in the erythropoietin receptor gene. It distinguishes primary inherited polycythemia from secondary causes such as chronic hypoxia or EPO-secreting tumors. The result guides phlebotomy targets, informs genetic counselling for blood relatives, and eliminates unnecessary investigations for acquired myeloproliferative neoplasms.

2. How long does it take to receive results?

Results are available within 21–28 days from sample receipt. The workflow includes DNA extraction, library preparation, high-depth next-generation sequencing, bioinformatic alignment against reference genomes, variant annotation, and expert clinical interpretation by our consultant medical geneticist. Expedited reporting can be arranged for urgent clinical cases through our patient support hotline.

3. Is this genetic test covered by health insurance in the UAE?

Direct insurance verification is available via WhatsApp — send your Emirates ID and insurance card photo to +971 54 548 8731. Our team handles all pre-authorization paperwork, and eligible plans from Daman, AXA, and other leading UAE insurers enjoy zero upfront payment through direct billing. Coverage depends on your individual policy benefits and medical necessity documentation from your referring specialist.

UAE Regulatory & Data Privacy Adherence

Licensed under DHA Facility License Number 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — all genetic information encrypted and processed locally within UAE servers
Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure electronic health data exchange
Clinical testing safety and patient consent governed under Federal Decree-Law No. 4 of 2016 on Medical Liability
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139)

Clinical & Logistical Metadata

Test Name	EPOR Gene Erythrocytosis, Familial Type 1 Genetic Test
Price (AED)	2,800 AED
Turnaround Time	21–28 days
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) — full coding and splice-site region analysis
ICD-10-CM Code	D75.0 (Familial polycythemia)
LOINC Code	81307-6 (EPOR gene full sequencing)
DHA Facility License & Laboratory Address	License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — Corporate Lab: DNA Labs UAE