JAK2 Mutation
Myeloproliferative disorders (MPD) are diseases in which certain types of blood cells are overproduced in the marrow. These include idiopathic myelofibrosis, essential thrombocythemia, and polycythemia vera. Patients with MPD have an increased tendency to form blood clots that can result in strokes or heart attacks, or experience abnormal bleeding due to abnormal platelets.
A DNA mutation in the JAK2 gene was found in chronic myeloproliferative disease patients and reported in simultaneous publications in 2005.
The JAK2 V617F mutation results in constitutive activation of a tyrosine kinase resulting in uncontrolled, overproduction of hematopoietic cells. Although the incidence varies, this JAK2 mutation is found in the majority of patients with polycythemia vera, and in approximately half of patients with essential thrombocythemia or chronic idiopathic myelofibrosis. Consequently, the detection of this mutation in JAK2 will be valuable in excluding non-neoplastic myeloid disorders and secondary polycythemia.
The detection of this mutation may also stimulate the development of targeted drug therapy for patients with these chronic myeloproliferative disorders.
| Specimen Required: | 4 mL whole blood in EDTA |
| Assay Performed: | Twice per week |
| Medicare Rebate: | Yes |