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Janus Kinase-2 (JAK2) DNA Mutation Assay


Definition


  • The V617F mutation in the JAK-2 gene is associated with myeloproliferative disorders (MPDs). This mutation was found in more than 80% (up to 97%) of patients with polycythemia vera, in approximately 50% of patients with idiopathic myelofibrosis (IMF), 30 " “50% of patients with essential thrombocythemia (ET), and also in other rare MPDs.
  • Normal values: an individual is negative for the JAK-2 gene mutation when the frequency of wild-type and mutant alleles is 100% and 0%, respectively.

Use


  • Suspected polycythemia vera (PV; OMIM# 263300), idiopathic myelofibrosis (IMF; OMIM# 254450), or essential thrombocythemia (ET)

Limitations


  • The results of a genetic test may be affected by DNA rearrangements, blood transfusion, bone marrow transplantation, or rare sequence variations.
  • Genetic causes of MPDs, other than the V617F mutation, will not be detected.
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