First CNV-specific reference material for gene amplifications in breast, lung, and brain cancer
February 14, 2018
SeraCare Life Sciences is expanding what is already the most comprehensive suite of clinical genomics development, validation, and QC tools with the launch of the SeraseqTM Breast CNV and Seraseq Lung and Brain CNV Mix. Reference materials that analyze for CNVs allow for a complete and comprehensive variant assessment of DNA-based tumor profiling and diagnostic molecular assays beyond SNVs and indels. These expert-designed products are built with innovative biosynthetic technology that is easily scalable to incorporate new CNVs over time.
Copy number variations (CNVs) are DNA segments present at a variable copy number in comparison to a normal genome. Cells that are affected by aberrant copy number changes for certain cancer-associated genes may experience disruption of normal cellular function and, ultimately, tumorigenesis. Next-generation sequencing (NGS) can be used to determine CNVs across multiple genes in a sequencing run.
In order to help clinical labs performing NGS-based tumor profiling for cancer diseases thoroughly understand and characterize their assays, SeraCare has developed the first set of dedicated CNV reference materials for NGS assays – Seraseq Breast CNV Mix and Seraseq Lung and Brain CNV Mix. These unique products were precisely quantified using highly sensitive digital PCR assays to analyze amplifications of EGFR, MET, FGFR3, MYC, ERBB2, and MYCN genes at +3, +6, and +12 copies against a single well-characterized genomic background (GM24385).