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MPN Comprehensive Panel (Blood)
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Molecular panel for myeloproliferative neoplasms.
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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
How our test process works!

