SRSF2 mutation analysis is performed by next-generation sequencing of all coding exons of the SRSF2 gene.
SRSF2 is a component of the RNA splicing complex, the spliceosome. Mutations are frequent in myeloid disorders including 12% MDS, 44% CMML, and 17% primary myelofibrosis (PMF), and are associated with poorer prognosis in these patients. 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.