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 .

Real-Time PCR using Light Cycler PCR is used for detecting the V617F mutation in the JAK2 gene via the polymerase chain reaction (PCR) and probe dissociation (melting curve) analysis. This method offers advantages of speed, sensitivity, reliability, and straightforward interpretation of the results. Homozygous wild type includes no mutation and the presence of Homozygous or heterozygous mutation indicates the presence of the disease.

JAK2 V617F Mutation is routinely done in Alfa laboratories with its result within 2 week