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:
- Karyotype analysis of bone marrow cells, combined with molecular detection of multiple chromosomal rearrangements
- Multicolor karyotype (M-FISH)
- Hybrid gene detection-semiquantitative analysis (additional information is provided)