Test Price
2,800 AED✅ Home Collection Available
JAK2 Gene Mutation Analysis (Essential Thrombocythemia Type 3) – Somatic NGS Test in UAE
Executive Summary & Core Metrics
The JAK2 Gene Mutation Analysis (Essential Thrombocythemia Type 3) uses Next-Generation Sequencing to detect the somatic V617F mutation and rare variants in the JAK2 gene with 99.9% diagnostic sensitivity. This ISO 9001:2015 accredited test (certificate INT/EGQ/2509DA/3139) is conducted at a DHA-licensed facility. VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM. Post-test telephonic guidance is provided by a DHA-licensed genetic counsellor.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (NGS with 500x coverage).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily).
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance by DHA-Licensed Genetic Counsellor for result interpretation.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The JAK2 Gene Mutation Analysis (Essential Thrombocythemia Type 3) by Next-Generation Sequencing identifies somatic mutations in the JAK2 gene, primarily the V617F variant, the hallmark of Philadelphia-negative myeloproliferative neoplasms. This test enables precise diagnosis, risk stratification, and therapeutic monitoring for patients with elevated platelet counts, offering results within 21–28 days at a cost of 2800 AED.
| Feature | Our Test (JAK2 NGS) | Closest Alternative |
|---|---|---|
| Precision | NGS with allele-specific read depth >500x, detects V617F & rare variants | Allele-specific PCR (limited to V617F only, lower sensitivity) |
| Method | Next-Generation Sequencing (ISO 9001:2015 accredited) | qPCR or droplet digital PCR |
| Speed | 21–28 days with genetic counselling included | 7–14 days (no counselling; limited clinical support) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasize that a positive JAK2 mutation confirms a clonal myeloid disorder, but must be interpreted alongside complete blood counts, bone marrow histology, and clinical symptoms. A negative result does not rule out essential thrombocythemia; approximately 10% of cases are triple-negative. Comprehensive hematologic correlation remains essential.”
Clinical Advisory: Treatment Continuity
Do not discontinue prescribed anticoagulants, antiplatelet agents, or cytoreductive therapy without consulting your doctor. This test is for diagnostic and monitoring purposes only and should not alter ongoing treatment without professional supervision.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Hemodynamically unstable patients (systolic BP <90 mmHg), active bleeding diathesis, or known recent massive transfusion (within 1 week) that may dilute somatic mutation signal.
- Inadequate Sample: Whole blood specimen that is clotted, significantly hemolyzed, or volume <1 ml. DNA extracted from non-validated sources may be rejected.
- ER Red Flags: If you experience sudden severe headache, vision changes, chest pain, or unilateral leg swelling (possible thrombosis or hemorrhage), proceed to the nearest emergency department immediately; do not wait for test results.
- Paediatric Note: Under UAE law, minors require a legal guardian's consent and paediatric genetic counselling prior to sample collection.
Patient FAQ & Clinical Guidance
1. How is the JAK2 somatic NGS test different from a standard JAK2 PCR test?
A: NGS not only detects the common V617F mutation but also scans the entire coding region for rare or compound JAK2 variants, delivering a comprehensive mutational profile at 500x coverage, which PCR cannot achieve.
2. Why does the test take 21–28 days, and is a genetic counselling session mandatory?
A: The extended turnaround allows for library preparation, high-depth sequencing, bioinformatics analysis, and a mandatory genetic counselling session that ensures you understand the implications of a positive or negative result.
3. What are the possible clinical outcomes if my test is positive for a JAK2 mutation?
A: A positive result confirms a clonal myeloproliferative neoplasm, which may necessitate lifelong hematology follow-up, cytoreductive therapy, and cardiovascular risk management guided by your DHA-licensed specialist.
UAE Regulatory & Data Privacy Adherence
- Licensed by DHA under Facility License No. 1143.
- All genetic testing performed with informed consent and data protection safeguards as per Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health data handling complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Patient genomic data is encrypted, stored on sovereign servers, and never shared without explicit consent.
- ISO 9001:2015 Quality Management System (Cert: INT/EGQ/2509DA/3139).
📞 Direct Billing & Home Collection: WhatsApp +971 54 548 8731 | Support: +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | JAK2 Gene Mutation Analysis (Essential Thrombocythemia Type 3) – Somatic NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 days |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | D47.3 |
| LOINC Code | 33453-8 |
| 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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