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JAK2 V617V mutation

TEST NAME

– JAK2 V617V mutation
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ABOUT TEST

– Janus kinase 2 (JAK2) is a member of the family of JAK protein kinases involved in cytokine receptor signaling. An acquired somatic mutation in exon 14 of JAK2 (G > T) leads to substitution of valine to phenylalanine at codon 617 (V617F) resulting in constitutive activation of JAK2 independent of cytokines. The mutation status of JAK2 gene at this codon is considered to have diagnostic value in chronic myeloproliferative neoplasms (MPN). Reports indicate that it is present in 65-97% of polycythemia vera (PV), 23-57% of essential thrombocythemia (ET), 35-75% of idiopathic myelofibrosis (MF) and rarely in other Philadelphia-negative MPN.
A positive result identifies the JAK2 V617F mutation and is strongly supportive of PV, ET or MF. However, a positive result is not specific for a particular MPN and clinical pathological data are necessary for additional classification. A negative result does not exclude the presence of MPN or other neoplastic process.
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GENES TESTED


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SAMPLE REQUIREMENTS

– EDTA
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TAT

– 5
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Related Tests

– BCR/ABL by PCR (Major breakpoint)
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