Bi-directional sequencing of exons 2 and 7 of the U2AF1 gene (also called U2AF35).
U2AF1 is a component of the RNA splicing complex, the spliceosome. Mutations are detected in myeloid disorders including 6% MDS, 4% AML, and 11% CMML. In MDS, mutations indicate risk for reduced overall survival and shorter time to AML transformation. Testing is useful for establishing diagnosis by distinguishing myeloid neoplasms from a reactive process and for assessing prognosis.
Peripheral blood: 5 mL in EDTA tube. Bone marrow: 2 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.