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Alternative Name
SF3B1 Gene Sequencing
Methodology
Molecular
Test Description

SF3B1 mutation analysis is performed by next-generation sequencing of all coding exons of the SF3B1 gene.

Clinical Significance

The splicing factor 3B subunit 1 gene (SF3B1) encodes part of the U2 small nuclear ribonucleoproteins complex involved in DNA damage repair. Mutations in SF3B1 are described in 15% of chronic lymphocytic leukemia (CLL) cases, particularly those with a deletion of the long arm of chromosome 11 (del11q), 28% of myelodysplastic syndrome (MDS) cases overall, and over 80% of MDS with ring sideroblasts (RS) cases. SF3B1 mutation is indicative of an intermediate risk prognosis in CLL, with poorer prognosis for those CLL patients with a co-occurrence of del(11q), but it is associated with a better prognosis in MDS, MDS/MPN-RS, and MDS/MPN-RS-T.

Specimen Requirements
  •  
  • Peripheral blood: 5 mL in EDTA tube.
  • Bone marrow: 2 mL in EDTA tube.
  • FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
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Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

CPT Code(s)*
81479
Turnaround Time

14 days

References
  1.  
  2. Te Raa G, Derks I, Navrkalova V, et al. The impact of SF3B1 mutations in CLL on the DNA-damage response. Leukemia. 2015;29(5):1133-1142.
  3. Inoue D, Bradley RK, Abdel-Wahab O. Spliceosomal gene mutations in myelodysplasia: molecular links to clonal abnormalities of hematopoiesis. Genes Dev. 2016;30(9):989-1001.
  4. Shahrabi S, Khosravi A, Shahjahani M, Rahim F, Saki N. Genetics and epigenetics of myelodysplastic syndromes and response to drug therapy: new insights. Oncol Rev. 2016;10(2):311.
  5. Taylor J, Xiao W, Abdel-Wahab O. Diagnosis and classification of hematologic malignancies on the basis of genetics. Blood. 2017;130(4):410-423.
  6. Patnaik MM, Tefferi A. Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS‐T): 2017 update on diagnosis, risk‐stratification, and management. Am J Hematol. 2017;92(3):297-310.
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Level of Service
Global

*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.