Human JAK2 Gene V617F Mutation Detection Kit (Digital PCR Method)

This kit is used to detect JAK2 gene V617F mutation (COSM12600, c.1849G>T) through DNA of tissue samples and cfDNA of plasma samples.

The protein encoded by the JAK2 gene is a non-receptor tyrosine kinase that is a member of the Janus kinase family. The myeloproliferative disorders most closely associated with the JAK2 gene include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). JAK2 V617F is a highly recurrent mutation in myeloproliferative disorders. It is found in 98% of patients with polycythemia vera and is positive in more than 50% of patients with essential thrombocythemia and primary myelofibrosis. Although less associated with cancer, myeloid leukemia is more common than lymphocytic leukemia. 

The V617F mutation is an activating mutation that results in the replacement of the normal valine (V) by phenylalanine (F) at amino acid 617. This change activated the JAK2 gene, leading to increased kinase activity and prompting these cells to grow more out of control. This mutation appears to be limited to hematological malignancies.