JAK2 V617F Mutation
Myeloproliferative disorders (MPD) are heterogeneous group of hematopoietic diseases accompanied with multiple hyperplasia of bone marrow cells. They include polycythemia vera, thrombocythemia & myelofibrosis. They are rather difficult for diagnosis and often only revealed by excluding other conditions.
Janus kinase 2 gene (JAK2), a member of the tyrosine kinase family, was recently identified and shown to be associated with several myeloproliferative disorders. Studies of patients with myeloproliferative disorders have identified the presence of an activating point mutation (V617F, 1849GT) in the Janus kinase 2(JAK2) gene in a majority of patients with polycythemia vera (65 to 97%)and in a significant subset of patients with essential thrombocythemia (23 to 57%) and chronic idiopathic myelofibrosis (35 to 57%)Therefore, the identification of the V617F mutation is of potential use in the diagnosis, prognosis, and perhaps selection of treatment for myeloproliferative disorders as well as research strategies in terms of molecular pathogenesis and drug development .
JAK2 V617F Mutation is routinely done in Alfa laboratories with its result within 2 week