SeraCare Announces Industry’s First CNV-Specific Reference Material for Gene Amplifications in Breast, Lung, and Brain Cancer

Truth-set NGS reference materials that broaden capabilities for tumor profiling assay validation and QC

MILFORD, Mass., Feb 13, 2018 /PRNewswire/ -- SeraCare Life Sciences, a manufacturer and leading partner to global in vitro diagnostics manufacturers and clinical laboratories, is expanding what is already the most comprehensive suite of clinical genomics development, validation, and QC tools with the launch of the Seraseq™ 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).

"The lack of realistic reference materials representing a broad range of cancer somatic aberrations has been a challenge for test developers and clinical labs alike when it comes to measuring accuracy of NGS tumor profiling tests," said Anna V. Hartwig, Ph.D., VP of R&D, TOMA Biosciences. "SeraCare reference materials have already enabled us to benchmark the ability of our assay to identify SNVs, indels, and rearrangements. Now with the new Seraseq CNV reference materials for detecting and quantifying oncogenic amplifications typical of breast, lung, & brain cancers, we have a complete toolset for the analytical validation of labs using our assay. This toolset is a great asset in advancing the ultimate end-goal of driving accurate diagnosis and management of treatment options available to cancer patients."

“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. SeraCare now offers the industry’s widest portfolio of clinical genomics QC reference materials and software for applications that include tumor profiling, liquid biopsy, heme malignancies, inherited disease testing, and NIPT. Our innovative products developed with ground-breaking technology and partnerships with key industry experts are now significantly accelerating new assay development and validation, along with providing confidence in the accuracy of routine assay results, in a wide range of laboratories worldwide.” said Trevor Brown, VP for the Clinical Genomics Business Unit at SeraCare.