Molecular Diagnostics

JAK2 V617F mutation

How is it used?

The JAK2 V617F test may be used, along with other tests such as erythropoietin, to help diagnose the myeloproliferative disorders (MPDs) polycythemia vera (PV), essential thrombocythemia (ET), and agnogenic myeloid metaplasia (primary myelofibrosis, PMF). It may be ordered as a follow-up test if a person has an increased hemoglobin and/or platelet count and the doctor suspects that the person may have an MPD.

When is it ordered?

The JAK2 V617F test may be ordered along with other tests when a doctor suspects that a person has PV, ET, or PMF because routine laboratory results such as a CBC reveal abnormal results associated with these MPDs and/or because the person has signs and symptoms that suggest an MPD.

Genetic analysis

  • A short family history must be taken. Any information regarding the patient's family history is important and quickens the analysis completion.
  • 2 x 3ml of peripheral blood in EDTA anticoagulant are required. The sample is either sent to BioGenomica laboratory on the same day the blood is being drawn, or can be stored for a longer time period in the freezer (-20 °C) until its postage. (Contant us for more information regarding postage details).
  • Genetic reports are handed to the attending physician in less than four (4) calendar weeks.

OMIM* 147796