Detection of the JAK2 V617F mutation

The ‘activating’ 1849G>T (V617F) mutation of the JAK2 gene (Janus kinase 2) is a relatively recently described mutation, present mainly (but not exclusively) in individuals with myelodysplasias and is closely related to disorders such as polycythemia vera, thrombocythemia και myelofibrosis.

A specially designed DNA minisiquencing technique is applied, from a peripheral blood or bone marrow sample, with a detection sensitivity of ?5% of cells harboring the mutation.

This test may also be applied in combination with: