JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test
Comprehensive Genetic Testing for Myeloproliferative Neoplasms
The JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test represents a cutting-edge molecular diagnostic approach for identifying key genetic mutations associated with myeloproliferative neoplasms (MPNs). This sophisticated reflex testing strategy provides clinicians with comprehensive genetic information essential for accurate diagnosis, prognosis assessment, and personalized treatment planning for patients with suspected blood disorders.
What This Advanced Test Detects
This comprehensive genetic analysis specifically targets two critical mutation types in the JAK2 gene:
- JAK2 V617F Mutation: The most common mutation found in MPNs, present in approximately 95% of polycythemia vera cases and 50-60% of essential thrombocythemia and primary myelofibrosis cases
- JAK2 Exon 12 Mutations: Alternative mutations that occur in JAK2 V617F-negative polycythemia vera patients, accounting for approximately 2-3% of cases
Who Should Consider This Test?
Clinical Indications and Symptoms
This test is recommended for patients presenting with symptoms or laboratory findings suggestive of myeloproliferative neoplasms:
- Elevated Blood Counts: Unexplained erythrocytosis, thrombocytosis, or leukocytosis
- Polycythemia Vera Symptoms: Headaches, dizziness, pruritus (especially after warm showers), erythromelalgia, splenomegaly
- Essential Thrombocythemia Indicators: Thrombotic or hemorrhagic complications, microvascular disturbances
- Primary Myelofibrosis Signs: Bone marrow fibrosis, constitutional symptoms, splenomegaly, anemia
- Family History: Individuals with family members diagnosed with MPNs
- Monitoring: Patients undergoing treatment for confirmed MPNs to assess treatment response
Significant Benefits of JAK2 Mutation Testing
Clinical Advantages and Patient Outcomes
- Accurate Diagnosis: Provides definitive molecular evidence for MPN diagnosis, reducing diagnostic uncertainty
- Personalized Treatment: Enables targeted therapy selection, including JAK2 inhibitors for mutation-positive patients
- Prognostic Information: Helps assess disease progression risk and potential for transformation to acute leukemia
- Therapeutic Monitoring: Allows tracking of treatment response and minimal residual disease assessment
- Family Risk Assessment: Provides information for genetic counseling and family risk evaluation
- Cost-Effective Approach: Reflex testing strategy ensures comprehensive analysis while optimizing testing costs
Understanding Your Test Results
Interpretation Guidance
Positive JAK2 V617F Mutation: Confirms diagnosis of a myeloproliferative neoplasm. Further clinical correlation is needed to determine the specific MPN subtype (polycythemia vera, essential thrombocythemia, or primary myelofibrosis).
Positive JAK2 Exon 12 Mutation: Typically associated with JAK2 V617F-negative polycythemia vera. These patients often present with isolated erythrocytosis and may have different clinical characteristics compared to V617F-positive cases.
Negative for Both Mutations: Does not completely rule out MPN diagnosis, as approximately 5-10% of MPN cases may be triple-negative (negative for JAK2, CALR, and MPL mutations). Additional testing may be recommended.
Important Note: Test results should always be interpreted by a qualified healthcare professional in the context of clinical findings, complete blood counts, bone marrow morphology, and other relevant diagnostic information.
Test Pricing and Availability
| Test Description | Regular Price | Discount Price |
|---|---|---|
| JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test | $376 USD | $262 USD |
Testing Details
- Turnaround Time: Sample received by Monday 11 AM, Report delivered by Saturday
- Sample Requirements: 3 mL (2 mL minimum) whole blood from 1 Lavender Top (EDTA) tube
- Shipping Instructions: Ship refrigerated. DO NOT FREEZE
- Required Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Testing Methodology: Real Time PCR and Fragment Analysis
Nationwide Testing Availability
We have diagnostic branches conveniently located across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our extensive network ensures accessible, reliable testing services for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about your blood disorder diagnosis delay your treatment. The JAK2 V617F Reflex to JAK2 Exon 12 Mutation Detection Test provides the critical genetic information needed for accurate diagnosis and personalized treatment planning. Our advanced molecular diagnostics, combined with our nationwide presence and competitive pricing at only $262 USD, make comprehensive genetic testing accessible to all patients.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our dedicated team is available to answer your questions and guide you through the testing process.
Take the first step toward precise diagnosis and targeted treatment. Your journey to better health management starts with accurate genetic information.
