Changes in the DNA sequence of chromosomes, including insertions, deletions and base substitutions. Somatic mutation analysis has become standard of practice for solid tumors in order to identify therapeutic sensitizing and resistance mutations (e.g., EGFR, KRAS, BRAF).
- Copy Number Variations (CNV)
CNVs are alterations of the DNA of the cancer genome that result in the cell having abnormal copies of one or more sections of the DNA. These alterations can have a significant impact on response to therapy (e.g., HER2).
Gene expression is the process by which information from a gene is used in the synthesis of a functional protein. Sequencing-based mRNA analysis enables the significant multiplexing of biomarker targets (e.g., ER, ERCC1).
Changes in the protein expression as measured by IHC has been utilized for many years as the gold-standard to quantitate the actual translation of altered gene products. Our ability to interrogate key protein markers (e.g. PD-L1, HER2, AR, MGMT, TOP1) provides insights on potential response to both cytotoxic agents as well as emerging clinical trials.
Fusions and isoforms are rearrangements of genes or the exons within genes that result in abnormal gene expression or function. These alterations can have significant impact on therapy, particularly in non-small cell lung cancers. PCDx precisely identifies the exact breakpoints with single-base resolution.