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MPN Comprehensive Panel (Blood)

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Report in 240Hrs

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No Fasting Required

Details

Molecular panel for myeloproliferative neoplasms.

17,76025,371

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MPN Comprehensive Panel (Blood)

  • Why is it done?
    • Detects mutations and genetic markers associated with myeloproliferative neoplasms (MPNs), including JAK2 V617F, CALR, and MPL mutations
    • Diagnoses chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)
    • Evaluates patients with unexplained elevated red blood cells, white blood cells, or platelets
    • Screens for BCR-ABL fusion gene (Philadelphia chromosome) to diagnose CML
    • Monitors disease progression and treatment response in confirmed MPN patients
    • Typically performed when patients present with symptoms such as fatigue, splenomegaly, thrombosis, or unusual bleeding
  • Normal Range
    • JAK2 V617F Mutation: Not detected (Negative) - Normal result
    • CALR Mutation: Not detected (Negative) - Normal result
    • MPL Mutation: Not detected (Negative) - Normal result
    • BCR-ABL Fusion Gene (Philadelphia Chromosome): Not detected (Negative) - Normal result
    • TP53 Mutation: Not detected (Negative) - Normal result
    • Interpretation: Negative/Not detected results indicate absence of common MPN-associated mutations. Positive results indicate presence of specific mutations associated with MPN diagnosis.
  • Interpretation
    • JAK2 V617F Mutation Positive: Present in approximately 50-60% of PV patients and 50% of ET/PMF patients; strongly suggests myeloproliferative neoplasm diagnosis
    • CALR Mutation Positive: Found in 25-30% of ET and PMF patients who are JAK2-negative; indicates CALR-mutated MPN subtype
    • MPL Mutation Positive: Present in 3-5% of ET and PMF cases; indicates thrombopoietin pathway activation
    • BCR-ABL Positive: Diagnostic of chronic myeloid leukemia; fusion gene present in >95% of CML cases
    • Triple-Negative MPN: Negative for JAK2, CALR, and MPL mutations; additional testing for ASXL1, TET2, and other mutations may be indicated
    • Factors Affecting Results: Clonal hematopoiesis can cause false positives in non-MPN conditions; heterozygous vs. homozygous mutation status affects disease severity; timing of testing relative to disease progression influences mutation detection
  • Associated Organs
    • Primary Organs: Bone marrow (hematopoietic tissue), spleen, liver
    • Polycythemia Vera (PV): Results from uncontrolled red blood cell production; complications include thrombosis (stroke, MI), hemorrhage, and bone marrow fibrosis
    • Essential Thrombocythemia (ET): Characterized by elevated platelet production; risks include arterial thrombosis, venous thromboembolism, and bleeding complications
    • Primary Myelofibrosis (PMF): Progressive fibrosis of bone marrow leading to extramedullary hematopoiesis; complications include hepatosplenomegaly, anemia, and acute leukemia transformation
    • Chronic Myeloid Leukemia (CML): BCR-ABL+ disorder of bone marrow; may progress to blast crisis affecting multiple organ systems; causes hepatosplenomegaly and potential CNS involvement
    • Associated Complications: Vascular thrombosis, hemorrhage, transformation to acute leukemia (blast crisis), secondary malignancies, and organ dysfunction from disease infiltration
  • Follow-up Tests
    • Bone Marrow Biopsy and Aspiration: Evaluates cellularity, fibrosis grade, and morphology to confirm MPN diagnosis and assess disease stage
    • Complete Blood Count (CBC): Monitors red blood cells, white blood cells, and platelets; repeated regularly to track disease progression
    • Peripheral Blood Smear: Morphologic assessment of blood cells to identify abnormalities and assess blasts
    • Cytogenetics/FISH: Detects chromosomal abnormalities and confirms Ph chromosome in CML; prognostic significance for risk stratification
    • Additional Mutation Testing: ASXL1, TET2, IDH1/IDH2, TP53 mutations for comprehensive mutation profiling in triple-negative cases and risk stratification
    • JAK2 Allele Burden Quantification: Quantitative PCR to measure mutation load; useful for monitoring treatment response and predicting prognosis
    • BCR-ABL Transcript Monitoring (for CML): Quantitative PCR for BCR-ABL to monitor treatment efficacy and detect resistance mutations
    • Coagulation Studies: PT/INR, aPTT to assess thrombotic and bleeding risk in MPN patients
    • Monitoring Frequency: Every 3-6 months for stable patients; more frequently during treatment initiation or disease progression; annual risk stratification assessment
  • Fasting Required?
    • Fasting: No - Fasting is NOT required for the MPN Comprehensive Panel
    • Meal Restrictions: Patients may eat and drink normally prior to blood draw
    • Medication Considerations: Continue all regular medications unless specifically instructed otherwise by physician; antimyeloproliferative medications (hydroxyurea, tyrosine kinase inhibitors, etc.) should be continued as scheduled
    • Specimen Collection Timing: Blood can be drawn at any time of day; no specific time restrictions apply
    • Specimen Requirements: Peripheral blood sample collected in EDTA (lavender-top) or appropriate collection tubes as specified by laboratory; proper labeling and handling essential for accurate molecular testing
    • Patient Preparation: No special preparation required; remain seated for 5 minutes before phlebotomy to stabilize blood pressure; hydration is beneficial but not required

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