Bi-directional sequencing of exons 5 and 7-11 of the ZRSR2 gene.
ZRSR2 is a component of the RNA splicing complex, the spliceosome. Mutations are detected in 8% of MDS and 4% of CMML. Mutations in MDS have been associated with shorter overall survival and an increased rate of transformation to AML. 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. Ship same day as drawn whenever possible; specimens <72 hours old preferred.