Test Price
1,500 AED✅ Home Collection Available
JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test
Executive Summary & Core Metrics
This advanced molecular diagnostic test provides precise detection of the JAK2 V617F mutation with reflex analysis of Exon 12 mutations using quantitative real‑time PCR and fragment analysis. Performed under DHA standards and UAE Federal Decree‑Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019, it delivers 99.9% diagnostic sensitivity in ISO 9001:2015 accredited laboratories. This analysis is the gold standard for diagnosing Philadelphia‑negative myeloproliferative neoplasms.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✓ 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 for result interpretation with our DHA‑licensed clinical team.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test is a high‑resolution molecular assay designed to identify somatic activating mutations in the Janus Kinase 2 gene — the defining biomarker in over 98% of polycythemia vera cases and a critical diagnostic criterion in essential thrombocythemia and primary myelofibrosis. This reflex protocol ensures that if the common V617F mutation is not detected, the sample is automatically tested for rarer Exon 12 mutations, eliminating diagnostic blind spots.
Specimen Requirements: 3 mL (2 mL minimum) whole blood collected in one Lavender Top (EDTA) tube. Ship refrigerated; do not freeze. A completed Genomics Clinical Information Requisition Form (Form 20) is mandatory. No fasting required; hydration recommended to facilitate venipuncture.
| Parameter | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity — Dual‑target qPCR + Fragment Analysis with Exon 12 Reflex | Single‑locus V617F genotyping only (~96% sensitivity; misses Exon 12 mutations) |
| Methodology | Real‑Time PCR (qPCR) + Fragment & STR Analysis — ISO 9001:2015 validated | Conventional PCR or Sanger sequencing (lower sensitivity; longer TAT) |
| Speed | 5‑Day Turnaround — Sample by Monday 11 AM → Report Saturday | 7–14 Days (offshore reference labs; cold‑chain delays) |
| UAE Compliance | DHA‑Licensed (Facility 1143) — Federal Decree‑Law No. 45 of 2021 (PDPL) & Federal Law No. 2 of 2019 Compliant | May lack UAE‑specific regulatory alignment |
Physician Insight & Safety Protocols
"The JAK2 V617F mutation is present in approximately 96% of polycythemia vera patients and 50–60% of essential thrombocythemia and primary myelofibrosis cases — but a negative V617F result does not exclude disease. That is precisely why this reflex panel extends to Exon 12 mutations, which account for the majority of the remaining PV cases. I cannot overstate the importance of correlating these molecular findings with hemoglobin, hematocrit, platelet counts, and bone marrow biopsy results. A positive JAK2 test alone, in the absence of clinical and morphological correlation, is insufficient to establish a definitive diagnosis of a myeloproliferative neoplasm."
— Dr. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Important Medication Advisory
Do not discontinue prescribed medication without consulting your doctor.
Patients on hydroxyurea, ruxolitinib, interferon‑alpha, or aspirin therapy must continue their prescribed regimen unless explicitly advised otherwise by their treating hematologist‑oncologist. Abrupt discontinuation can precipitate thrombotic events or disease progression.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This test is not indicated for isolated erythrocytosis of non‑clonal origin (e.g., chronic hypoxia, high‑altitude adaptation, EPO‑secreting tumors, or relative polycythemia due to plasma volume contraction). Confirm secondary causes before ordering.
- Emergency Red Flag: If you experience sudden severe headache, visual disturbances, intense pruritus after showering (aquagenic pruritus), or signs of thrombosis (unilateral leg swelling, chest pain, dyspnea), seek emergency medical evaluation immediately — these may indicate uncontrolled myeloproliferation requiring urgent intervention.
- Minors: Genetic testing in minors requires explicit clinical justification and guardian consent documented on Form 20, in accordance with DHA regulations and UAE PDPL.
Patient FAQ & Clinical Guidance
1. What does a positive JAK2 V617F mutation result mean for my diagnosis?
A: A positive JAK2 V617F mutation result indicates the presence of an acquired (somatic) genetic variant strongly associated with Philadelphia‑negative myeloproliferative neoplasms, most commonly polycythemia vera, and must be interpreted alongside your complete blood count, erythropoietin level, and bone marrow biopsy by your hematologist‑oncologist. This result alone is not a cancer diagnosis but a critical piece of the diagnostic puzzle that, when combined with clinical findings, helps guide targeted therapy decisions.
2. Why is the Exon 12 reflex testing necessary if my V617F result is negative?
A: Approximately 4% of polycythemia vera patients harbor JAK2 mutations exclusively in Exon 12 rather than the common V617F site, and without reflex testing these patients would receive a false‑negative result, leading to diagnostic delay and missed opportunities for early therapeutic intervention. The reflex protocol ensures complete molecular coverage so that no JAK2‑driven myeloproliferative neoplasm goes undetected.
3. Can I take this test if I am on blood‑thinning medication such as aspirin?
A: Yes, the JAK2 mutation test can be safely performed in patients taking aspirin or other blood thinners without the need to discontinue medication. The blood sample is drawn from a peripheral vein using standard safety procedures with local pressure after draw. Please inform the nursing team of all current medications when completing the Genomics Clinical Information Requisition Form (Form 20).
UAE Regulatory & Data Privacy Adherence
DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
This facility complies with 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 testing procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test |
| Price (AED) | 1,500 |
| Turnaround Time | 5 Business Days |
| Sample Type / Matrix | Whole Blood (EDTA) |
| Methodology Used | Real‑Time PCR (qPCR) + Fragment Analysis |
| ICD‑10‑CM Code | D45, D47.3, D47.4, Z15.89 |
| LOINC Code | 43399-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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