JAK2 V617F CALR MPL Mutation Detection Profile Test

Comprehensive Molecular Testing for Myeloproliferative Neoplasms

The JAK2 V617F CALR MPL Mutation Detection Profile Test represents a breakthrough in molecular diagnostics for hematological malignancies. This comprehensive panel specifically targets three critical genetic markers that play pivotal roles in the development and progression of myeloproliferative neoplasms (MPNs). By analyzing these key mutations, healthcare providers can achieve unprecedented accuracy in diagnosing and classifying blood disorders that affect bone marrow function.

What This Advanced Test Measures

This sophisticated molecular profile detects specific genetic alterations in three essential genes:

• JAK2 V617F Mutation: The most common mutation in MPNs, present in approximately 95% of polycythemia vera cases and 50-60% of essential thrombocythemia and primary myelofibrosis patients
• CALR Mutations: Calreticulin gene mutations found in approximately 20-25% of essential thrombocythemia and 25-35% of primary myelofibrosis cases
• MPL Mutations: Thrombopoietin receptor mutations occurring in about 5-10% of essential thrombocythemia and primary myelofibrosis patients

Who Should Consider This Genetic Testing?

This comprehensive mutation profile is particularly important for individuals experiencing:

• Unexplained elevations in red blood cell counts (polycythemia)
• Persistent increases in platelet counts (thrombocytosis)
• Abnormal bone marrow fibrosis findings
• Constitutional symptoms including fatigue, night sweats, and weight loss
• Aquagenic pruritus (itching after warm baths)
• Splenomegaly (enlarged spleen) or hepatomegaly (enlarged liver)
• Thrombotic or hemorrhagic complications
• Family history of myeloproliferative disorders

Significant Benefits of Comprehensive Mutation Testing

Choosing the JAK2 V617F CALR MPL Mutation Detection Profile offers multiple advantages:

• Accurate Diagnosis: Provides definitive molecular evidence for MPN classification
• Treatment Guidance: Results inform targeted therapy decisions, including JAK inhibitor treatments
• Prognostic Information: Different mutation patterns correlate with disease progression and outcomes
• Disease Monitoring: Establishes baseline for tracking treatment response and disease evolution
• Family Risk Assessment: Helps evaluate genetic predisposition in family members

Understanding Your Test Results

Your test results will provide critical information about your genetic profile:

• Positive JAK2 V617F: Strongly supports diagnosis of polycythemia vera, essential thrombocythemia, or primary myelofibrosis
• Positive CALR Mutation: Typically associated with essential thrombocythemia or primary myelofibrosis, often with more favorable prognosis
• Positive MPL Mutation: Indicates essential thrombocythemia or primary myelofibrosis with specific therapeutic implications
• Triple Negative: Absence of all three mutations may suggest alternative diagnoses or rare MPN subtypes

All results should be interpreted by your hematologist or oncologist in the context of your complete clinical picture, including blood counts, bone marrow findings, and physical examination.

Test Pricing and Availability

Nationwide Testing Availability

We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art molecular diagnostics laboratories ensure consistent, reliable results regardless of your location.

Take Control of Your Health Today

Don’t let uncertainty about your blood disorder diagnosis delay proper treatment. The JAK2 V617F CALR MPL Mutation Detection Profile provides the molecular clarity needed for accurate diagnosis and targeted therapy. Our experienced team is ready to assist you with convenient testing scheduling and comprehensive result interpretation.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your test or speak with our genetic counseling specialists. Take the first step toward precise diagnosis and personalized treatment planning.

Note: Sample must be received by Monday 11 AM for Saturday report delivery. Required sample: 3 mL (2 mL minimum) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.