Alternative Name
SF3B1 Gene Sequencing
Test Description

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.

Clinical Significance

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).

Specimen Requirements

Peripheral blood: 5 mL in EDTA tube. Bone marrow: 2 mL in EDTA tube.

Storage and Transportation

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.

CPT Code(s)*
Turnaround Time

10 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.