JAK2 Gene Mutation Test - JAK2 Mutation Detection by PCR

A molecular assay using polymerase chain reaction (PCR) was performed to detect a specific point mutation in the Janus Kinase 2 (JAK2) gene, namely the V617F mutation (valine to phenylalanine substitution at position 617) and associated mutations in exon 12 such as G1849T. This mutation causes the JAK2 enzyme to be in a state of permanent activation, which stimulates uncontrolled proliferation of blood cells.