JAK2 Mutation Detection Qualitative PCR Test
Comprehensive Blood Cancer Genetic Screening
The JAK2 Mutation Detection Qualitative PCR Test represents a breakthrough in molecular diagnostics for hematological malignancies. This sophisticated genetic analysis specifically targets mutations in the Janus Kinase 2 (JAK2) gene, which plays a critical role in blood cell production and regulation. When JAK2 mutations occur, they can trigger uncontrolled blood cell proliferation, leading to serious myeloproliferative disorders that require immediate medical attention and specialized treatment approaches.
What Does the JAK2 Mutation Test Detect?
This advanced molecular test specifically identifies:
- JAK2 V617F Mutation: The most common mutation found in approximately 95% of polycythemia vera cases and 50-60% of essential thrombocythemia and primary myelofibrosis patients
- JAK2 Exon 12 Mutations: Additional genetic variations that can cause similar blood disorders
- Qualitative Detection: Provides clear positive or negative results for mutation presence
- High Sensitivity: Capable of detecting mutations even at low levels in blood samples
Who Should Consider JAK2 Mutation Testing?
This test is particularly important for individuals experiencing:
- Unexplained elevated red blood cell counts (polycythemia)
- Persistent high platelet counts (thrombocythemia)
- Unexplained spleen enlargement (splenomegaly)
- Chronic fatigue and weakness without clear cause
- Night sweats, itching after bathing (aquagenic pruritus)
- Bone pain or discomfort
- Abnormal blood clotting or bleeding tendencies
- Family history of blood disorders or hematological cancers
Clinical Benefits of JAK2 Mutation Detection
Early detection through JAK2 mutation testing provides numerous advantages:
- Accurate Diagnosis: Differentiates between reactive blood count changes and true myeloproliferative neoplasms
- Treatment Guidance: Helps oncologists select targeted therapies including JAK inhibitors
- Prognostic Information: Provides insights into disease progression and potential complications
- Monitoring Tool: Enables tracking of treatment response and disease evolution
- Family Risk Assessment: Identifies potential hereditary components in blood disorders
Understanding Your Test Results
Your JAK2 mutation test results will fall into one of these categories:
- Positive Result: Indicates the presence of JAK2 mutation, confirming diagnosis of a myeloproliferative neoplasm. Your oncologist will discuss appropriate treatment options including targeted therapy, medication management, and ongoing monitoring strategies.
- Negative Result: Suggests absence of common JAK2 mutations, though additional testing may be recommended if clinical suspicion remains high. Negative results help rule out certain blood cancers and guide further diagnostic evaluation.
- Inconclusive Result: Rare cases may require repeat testing or alternative molecular methods to ensure accurate diagnosis.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| JAK2 Mutation Detection Qualitative PCR Test | $188 USD | $250 USD |
Nationwide Testing Network
We provide comprehensive JAK2 mutation testing services across the United States with convenient locations in:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas metropolitan areas
- Phoenix and Arizona communities
- Philadelphia and Northeast territories
- All other major US cities and regions
Sample Requirements and Processing
For accurate JAK2 mutation detection, we require:
- Sample Type: 3 mL (2 mL minimum) whole blood from 1 Lavender Top (EDTA) tube
- Shipping: Refrigerated transport required – DO NOT FREEZE
- Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Turnaround Time: Samples accepted Monday/Thursday by 11 AM; Results delivered Wednesday/Saturday
Take Control of Your Health Today
Don’t wait for symptoms to progress. Early detection of JAK2 mutations can significantly impact treatment outcomes and quality of life. Our experienced molecular diagnostics team, led by board-certified oncologists and genetic specialists, ensures the highest standards of accuracy and reliability in every test.
Ready to schedule your JAK2 Mutation Detection Test? Contact our dedicated patient care team today at +1(267) 388-9828 or book your appointment online. Take the first step toward precise diagnosis and personalized treatment planning.

