The V617F mutation in the JAK-2 gene is associated with myeloproliferative disorders (MPDs). This mutation was found in more than 80% (up to 97%) of patients with polycythemia vera, in approximately 50% of patients with idiopathic myelofibrosis (IMF), 30 " “50% of patients with essential thrombocythemia (ET), and also in other rare MPDs.
Normal values: an individual is negative for the JAK-2 gene mutation when the frequency of wild-type and mutant alleles is 100% and 0%, respectively.
Use
Suspected polycythemia vera (PV; OMIM# 263300), idiopathic myelofibrosis (IMF; OMIM# 254450), or essential thrombocythemia (ET)
Limitations
The results of a genetic test may be affected by DNA rearrangements, blood transfusion, bone marrow transplantation, or rare sequence variations.
Genetic causes of MPDs, other than the V617F mutation, will not be detected.