Highlights of Coverage and Analysis

New genes added to our cancer testing panels.

Cancer Testing Panel: CTNNA1, GREM1, NTHL1, SLC45A2

  • Typical coverage for coding sequences: 99% at ≥ 50x

  • Deletion and duplication analysis with single exon resolution for all genes
  • BRCA2: Portuguese Founder Mutation
  • PTEN: Promoter region
  • TP53: Promoter region
  • CDKN2A: p14ARF and p16 protein products
  • PMS2: Analysis includes exons 1-5 and 12-15
  • TERT: Promoter region

Pmcdx Cancer Panels cover 127 genes associated with potential risk for hereditary cancer syndromes. These panels include well-established cancer-related genes as well as candidate genes with newly discovered association with cancer but may have reduced or unclear risk. Hereditary cancer syndromes with complex presentations may benefit from more comprehensive testing. Pmcdx Cancer Panels maximize the chance of identifying disease-causing variants and provide an extensive review of potential cancer risks from additional candidate genes.