RT-PCR and bi-directional sequencing of exons 14-17 of the SF3B1 gene. More than 90% of reported mutations are detected in these exons. This test detects mutations present at 10-15% or more in a wild-type background.
SF3B1 mutations occur in 10-15% of CLL patients and serve as independent predictors of shortened time to treatment and poorer overall survival in CLL. Mutations are also detected in approximately 28% of MDS and 19% of myelodysplastic/myeloproliferative neoplasms. In MDS/MPN, most mutations were found in refractory anemia with ring sideroblasts (the RARS subtype).
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.