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Lahalak Medical PlatformDifferentiate Care
JAK2 Mutation Detection by PCR
Advanced genetic analysis to detect mutations causing bone marrow disorders, aiding in the precise diagnosis of polycythemia vera and myelofibrosis to guide effective treatment.
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.
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