SeraCare Life Sciences, Milford, Mass, has expanded its suite of clinical genomics development, validation, and quality control (QC) tools with the launch of the Seraseq breast copy number variation (CNV) mix 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 single-nucleotide variations and indels. The products are built with biosynthetic technology that is scalable to incorporate new CNVs over time.

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 thoroughly understand and characterize their assays, SeraCare has developed a set of dedicated CNV reference materials for NGS assays: Seraseq breast CNV mix and Seraseq lung and brain CNV mix. These products were precisely quantified using highly sensitive digital polymerase chain reaction assays to analyze amplifications of EGFR, ERBB2, FGFR3, MET, MYC, and MYCN genes at +3, +6, and +12 copies against a single well-characterized genomic background (GM24385).

“With the release of the industry’s first quantitative CNV-focused reference materials for tumor profiling, we continue our commitment and leadership in the clinical genomics market,” says said Trevor Brown, vice president for the clinical genomics business unit at SeraCare.

For more information, visit SeraCare Life Sciences.