This kit is used to detect the JAK2 gene V617F mutation (COSM12600, c.1849G>T) in DNA samples extracted from tissue and cfDNA samples obtained from plasma.
The JAK2 gene encodes a non-receptor tyrosine kinase that belongs to the Janus kinase family. The JAK2 gene is closely associated with several myeloproliferative disorders, including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The JAK2 V617F mutation is a highly recurrent mutation observed in myeloproliferative disorders. It is found in approximately 98% of patients with polycythemia vera and is positive in over 50% of patients with essential thrombocythemia and primary myelofibrosis. While it is less commonly associated with cancer, it is more prevalent in myeloid leukemia compared to lymphocytic leukemia.
The V617F mutation is an activating mutation that results in the substitution of the normal valine (V) with phenylalanine (F) at amino acid position 617. This alteration activates the JAK2 gene, leading to increased kinase activity and uncontrolled cell growth. This mutation appears to be restricted to hematological malignancies.
Human JAK2 Gene V617F Mutation Detection Kit (Digital PCR)