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JAK-2 Mutation (CMPD) (V617F) by Real Time PCR - Blood

Reproductive
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Report in 192Hrs

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Detects JAK2/CALR/MPL mutations.

₹9,361₹13,373

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JAK-2 Mutation (CMPD) (V617F) by Real Time PCR - Blood

  • Why is it done?
    • Detects the JAK-2 V617F mutation, a specific genetic alteration commonly found in myeloproliferative neoplasms (MPN) or chronic myeloproliferative diseases (CMPD)
    • Primary indication: Diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)
    • Performed when patients present with unexplained erythrocytosis (elevated red blood cell count), thrombocytosis (elevated platelet count), or leukocytosis (elevated white blood cell count)
    • Used to differentiate reactive causes from clonal myeloproliferative disorders
    • Performed for monitoring disease progression and assessing disease burden in known myeloproliferative neoplasm patients
    • Typically ordered when clinical features suggest myeloproliferative disorder and initial screening tests show abnormal blood counts
  • Normal Range
    • Result: Negative or Not Detected
    • Quantitative values (when mutation is present): Reported as percentage of mutant allele burden (allele burden %), typically ranging from <1% to >50%
    • Units of measurement: Percentage (%) or International Scale (IS) for standardized reporting
    • Normal interpretation: Absence of JAK-2 V617F mutation indicates patient is either not affected by a JAK-2 mutated myeloproliferative neoplasm, or may have an alternative MPN (such as CALR or MPL mutation positive disease)
    • Abnormal interpretation: Detection of JAK-2 V617F mutation supports diagnosis of myeloproliferative neoplasm; higher allele burden may correlate with disease burden and symptom severity
  • Interpretation
    • Negative/Not Detected: No JAK-2 V617F mutation present; does not exclude MPN diagnosis (approximately 50% of ET and PMF cases are JAK-2 negative); suggests need for CALR and MPL mutation testing
    • Positive (Low burden <5%): Presence of JAK-2 mutation with low allele burden; may indicate early-stage disease or heterozygous mutation; consistent with MPN diagnosis; important for confirming clonal disorder
    • Positive (Intermediate burden 5-50%): Detectable JAK-2 mutation with moderate allele burden; indicates established myeloproliferative neoplasm; typically heterozygous mutation state
    • Positive (High burden >50%): High JAK-2 allele burden suggesting homozygous or near-homozygous mutation state; associated with higher disease burden, more severe symptoms, and increased thrombotic/bleeding risk
    • Factors affecting results:
    • Allele burden may fluctuate with disease progression, response to therapy, or cytoreductive treatment
    • Sensitivity of real-time PCR allows detection of mutations at very low levels (detection threshold typically 0.1-1%)
    • Sample quality and cell count can affect result reliability
    • Recent blood transfusions may dilute mutant clone and lower apparent allele burden
    • JAK-2 positive status strongly supports diagnosis of PV, ET, or PMF when combined with clinical and morphologic findings; approximately 95% of PV patients, 55% of ET, and 50% of PMF patients carry this mutation
  • Associated Organs
    • Primary organ systems:
    • Bone marrow (primary site of abnormal hematopoiesis)
    • Hematopoietic system (affects red blood cells, platelets, and white blood cells)
    • Spleen (frequently enlarged in myeloproliferative disorders)
    • Liver (can develop extramedullary hematopoiesis)
    • Associated conditions and diseases:
    • Polycythemia Vera (PV): Uncontrolled production of red blood cells; JAK-2 positive in ~95% of cases
    • Essential Thrombocythemia (ET): Elevated platelet count; JAK-2 positive in ~55% of cases
    • Primary Myelofibrosis (PMF): Progressive bone marrow fibrosis; JAK-2 positive in ~50% of cases
    • Post-polycythemia vera myelofibrosis (PPVMF): Secondary myelofibrosis occurring after PV
    • Post-essential thrombocythemia myelofibrosis (PETMF): Secondary myelofibrosis occurring after ET
    • Potential complications with abnormal results:
    • Thrombotic events (stroke, myocardial infarction, deep vein thrombosis) - major cause of morbidity and mortality
    • Hemorrhagic complications and bleeding events
    • Progression to acute myeloid leukemia (AML) - 5-20% risk over 10-15 years
    • Transformation to myelofibrosis with worsening symptoms and increased splenomegaly
    • Constitutional symptoms (fatigue, night sweats, fever, weight loss)
    • Visceral thrombosis (splenic, portal, hepatic vein thrombosis)
    • Splenomegaly with associated pain and early satiety
  • Follow-up Tests
    • If JAK-2 V617F is positive:
    • Complete blood count (CBC) with differential - assess red blood cells, platelets, and white blood cells
    • Bone marrow biopsy and aspiration - morphologic assessment and cytochemical studies
    • Erythropoietin (EPO) level - low EPO supports PV diagnosis
    • LDH (lactate dehydrogenase) and uric acid - markers of disease burden
    • Coagulation studies (PT, aPTT) - assess thrombotic and hemorrhagic risk
    • Abdominal ultrasound or CT - evaluate for splenomegaly and portal vein thrombosis
    • Oxygen saturation and arterial blood gas - if polycythemia vera suspected
    • If JAK-2 V617F is negative:
    • CALR (Calreticulin) mutation testing - positive in ~25-30% of ET and PMF cases
    • MPL (Myeloprolifetin) mutation testing - positive in ~5-10% of ET and PMF cases
    • Investigate for secondary causes of cytosis (infection, inflammation, tissue necrosis, medications)
    • Ongoing monitoring:
    • JAK-2 allele burden quantification every 6-12 months - monitor disease progression and response to therapy
    • CBC with differential every 3-6 months - monitor blood counts and disease progression
    • LDH and uric acid periodically - assess disease burden
    • Symptomatic assessment and physical examination regularly - monitor for constitutional symptoms and splenomegaly
    • Annual imaging or as clinically indicated - screen for complications such as thrombosis
  • Fasting Required?
    • Fasting: No - fasting is NOT required for this test
    • Special instructions and preparations:
    • Patient can eat and drink normally before the blood draw - no dietary restrictions
    • Blood sample collected via venipuncture into EDTA (lavender-top) or other tube as specified by laboratory
    • No specific medications need to be discontinued before testing - JAK-2 mutation status is not affected by cytoreductive therapy
    • Avoid strenuous exercise immediately before sample collection - not required but may help reduce stress
    • Sample should be collected during normal clinic hours for optimal processing and turnaround time
    • Ensure proper sample labeling with patient demographics and clinical indication for testing
    • Sample should be transported to laboratory promptly (usually within 24 hours of collection) to maintain sample integrity

How our test process works!

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