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Alternative Name
Beta-catenin
Methodology
Molecular
Test Description

CTNNB1 mutation analysis is performed by next-generation sequencing of all coding exons of the CTNNB1 gene.

Clinical Significance

CNNTB1 encodes the beta-catenin protein which is involved in cell adhesion and the beta-catenin/WNT signaling pathway. Somatic CTNNB1 mutations, primarily involving exon 3, are detected in ~85% of sporadic desmoid tumors (desmoid fibromatosis). Mutations are detected in ~3% of all cancers including melanoma and adenocarcinomas of lung, endometrium (endometrioid), colon, kidney (hepatocellular), and ovary. Testing may suggest therapy or clinical trial options.

Specimen Requirements
  • 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.
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. CTNNB1 page. My Cancer Genome website. https://www.mycancergenome.org/content/gene/ctnnb1/. Accessed March 12, 2020.
  2. CTNNB1 page. NIH Genetics Home Reference website. https://ghr.nlm.nih.gov/gene/CTNNB1#conditions. Accessed March 12, 2020.
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.