JAK2 Mutation (V617F) Analysis

Test ID: QG047

CPT code: 81270
LOINC: 48726-4
Specimen Type: Lavendar EDTA
Frequency: Friday; analytic time 8 days
Instructions: 6mL (4mL min.) whole blood in EDTA lavender tube. Refrigerate. Do not Spin. Send original tube (do not share with other testing).
Text: Myeloproliferative disorders (MPDs) are clonal hematopoietic stem cell malignancies characterized by excessive production of blood cells by hematopoietic precursors. In addition to thrombotic and hemorrhagic complications, leukemic transformation can occur. The main members of MPDare Polycythemia Vera (PV), Essential Thrombocythemia (ET) and IdiopathicMyelofibrosis (MF). The molecular pathogenesis of most MPDs is unknown. This V617F mutation leads to constitutive tyrosine phosphorylation activity that promotes cytokine activity and induces erythrocytosis. The V617F mutation in JAK2 is a dominant gain-of function mutation that contributes to the expansion of the myeloproliferative disorder clone.
Methodology: Qualitative PCR

Test Name

AMS Laboratory

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