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JANUS KINASE 2 V617F MUTATION, NON-BLOOD

Test Code: NJAK2
Description: The V617F (1849G>T) point mutation in the JAK2 gene, a member of the tyrosine kinase family, is associated with several myeloproliferative disorders. It causes constitutive tyrosine kinase activation, resulting in proliferation of bone marrow progenitor cell populations. The JAK2 mutation is present in >80% of individuals with polycythemia vera, and also seen in other MPDs such as essential thrombocythemia and chronic idiopathic myelofibrosis. The assay to detect the mutation includes isolation of DNA, gene amplification via the polymerase chain reaction (PCR), and probe dissociation (melting curve) analysis to determine presence of the mutation.

 
 


 
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