Alternative Name
U2AF1 Gene Sequencing
Test Description

Bi-directional sequencing of exons 2 and 7 of the U2AF1 gene (also called U2AF35).

Clinical Significance

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.

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.

CPT Code(s)*
Turnaround Time

14 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.