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Test Name

JAK2 Exons 12 and 13 Mutations, Qualitative, Leumeta®

CPT Code(s)

81403

Methodology

Polymerase Chain Reaction (PCR) • Sequencing

Reference Range(s)

JAK2 exon 12 Mutations Not detected
JAK2 exon 13 Mutations Not detected

Clinical Significance

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 MPD are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Idiopathic Myelofibrosis (MF). The molecular pathogenesis of most MPDs is unknown. This V617F mutation leads to constituitive 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. JAK2 exon 12 mutations define a distinctive myeloproliferative syndrome.

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JAK2 Exons 12 and 13 Mutations, Qualitative, Leumeta®
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