Polycythemia vera
Analysis ID 289
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Polycythemia vera
OMIM #263300
Clinical information Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients. PV is distinct from the familial erythrocytoses, which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors, namely erythropoietin.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes JAK2
Analysis description Analysis of the most common mutation in the JAK2 gene (mutation V617F)
Analysis indication In case of symptoms indicating polycythemia vera
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for Molecular Genetics and Oncology