The Janus Kinase 2 Gene (JAK2) harbours a mutation, V617F, that is present in many patients with clonal haematological malignancies classed as myeproliferative disorders.  Two independent studies demonstrated that the majority of patients with polycythemia vera and a significant number of patients with essential thrombocythemia and myeloid metaplasia with myelofibrosis have a clonal acquired somatic JAK2(V617F) activating mutation.

Identification of the JAK2(V617F) mutation in myeloproliferative disorders (MPD) may be useful both to assist in identifying MPD and assessing patients for a viable targeted pharmacological treatment.

Testing information

  •  PCR procedure with RFLP screen
  • Detection ±20% (i.e. mutant clones <20% may be missed)

Uses of assay

  •  Presence of mutation is highly suggestive of Polycythemia vera, essential thrompocythemia and MMM.
  • Patients with mutations benefit from novel therapeutic strategies that target and inhibit JAK2 activity.