Analysis index

5 ml EDTA-blood. As this is a mutation associated with neoplasia, a declaration of consent in accordance with the genetic diagnostics law (GenDG) is not required.

• Polycythemia vera (PV)
• Chronic idiopathic myelofibrosis (IMF) (Osteomyelosclerosis)
• Essential thrombocythemia (ET)
• Differential diagnosis: BCR-ABL-negative chronic myeloproliferative diseases (CMPE)
• Habitual abortion

Demonstration of point mutation V617F in the Janus-kinase-2 (JAK2-signal transmitting cytoplasmic tyrosine-kinase). The mutation is seen in 90 % – 95 % of patients with polycythemia vera and approximately 50 % – 60 % of patients with essential thrombocythemia (ET) or chronic idiopathic myelofibrosis (IMF).

Acquired point mutation JAK2 can be seen in 90 % of patients with polycythemia vera (PV) and approximately 50 % of patients with chronic idiopathic myelofibrosis (IMF) and essential thrombocythemia (ET). The point mutation V617F was discovered in the gene of the Janus-kinase-2 (JAK2-signal transmitting cytoplasmic tyrosine-kinase), whose activity is increased by the mutation. As it is an acquired mutation, sensitivity for the listed diseases depends on the number of mutated cells. For Philadelphia-chromosome-negative chronic myeloproliferative illnesses (or after BCR/ABL-translocation has been ruled out), we recommend testing for JAK2-mutation as well as extensive chromosome analysis for the exclusion or confirmation of clonal chromosome-aberrations.