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Test Name:
JAK2 (V617F) Mutation Analysis

  • TMF No:
  • Performance Lab Name:
    .SBMF Flow Cytometry / Molecular Pathology
  • Test Mnemonic:
    JAK2 PCR
  • ABN:
    Local Coverage Determination (LCD): MolDX: Genetic Testing for BCR-ABL Negative Myeloproliferative Disease (L36815)
    Local Coverage Article: MolDX: Approved Gene Testing (A55248)
  • CPT Code:
  • Also Known As:
    Janus Kinase 2 Mutation; Tyrosine Kinase Mutation
  • Patient Prep:
    NOTICE: Genetic tests are often subject to limited coverage and/or prior-authorization requirements. Consult the patient’s medical insurance provider before ordering this test.
  • Spec Collect:
    Lavender top (EDTA) tube; whole blood or bone marrow. Mix by inverting tube 8 times.
  • Spec Process:
    Transport 3 mL whole blood (Min: 1 mL) OR 3 mL bone marrow (Min: 1 mL)
  • Spec Store Transport:
  • Spec Stability:
    Room temperature: 24 hours
    Refrigerated: 10 days
    Frozen: Unacceptable
  • Spec Reject:
    Serum or plasma. Specimens collected in anticoagulants other than EDTA. Frozen specimens. Clotted or grossly hemolyzed specimens.
  • Methodology:
    Polymerase Chain Reaction (PCR)
  • Use:
    Aids in diagnosing a patient with a myeloproliferative disorder (PV, ET or IMF)
    Detection of the mutation may be helpful in triaging patients with myeloproliferative disorders (MPD) for further work-up and assess treatment options
  • Clinical Significance:

    The JAK2 V617F mutation is an acquired somatic point mutation that involves exon 12 of the JAK2 gene on chromosome 9p. The mutation alters codon 617 from a valine to a phenylalanine and it appears to be mutually exclusive of bcr/abl translocation. It is seen in a variety of bcr/abl negative chronic MPDs. It is reported that the mutation is found in 80% of polycythemia vera (PV), 30% of essential thrombocythemia (ET), 50% of idiopathic myelofibrosis (IMF) and others, such as chronic myelomonocytic leukemia (CMML), atypical Ph- CML, hypereosinophilic syndrome, systemic mastocytosis and chronic neutrophilic leukemia.

    The absence of JAK2 V617F mutation does not completely rule out a diagnosis of MPD.

  • Interpretive Data:

    The detection limit of the assay for JAK2 V617F mutation is approximately 30-50 of JAK2 V617F copies.

    Genomic DNA is isolated from the patient sample and the test is performed based on real-time PCR Double Dye Hydrolysis Oligonucleotide Probes principle. PCR reaction is individually controlled by detection of wildtype (V617V) of the JAK2 gene sequences present in the normal human genome.

    Results of this test must be interpreted with other clinical data and should not be used alone to diagnose a malignancy.

    This test is performed using JAK2 MutaQuant Kit by Ipsogen, which is a reagent that is designated by the manufacturer as "For Research Use". Its performance was established and confirmed by the SBMF. This test is not cleared or approved by the U.S. FDA. The results should not be used as the sole means for clinical diagnosis and patient monitoring. South Bend Medical Foundation is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing. This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.

  • Additional Test Info:
    Lab Tests Online
  • Day Run:
  • Time Run:
    8:00 am
  • Time Reported:
    1-2 days (after set-up)
  • Test Type: