MILFORD, Mass., March 23, 2017 /PRNewswire/ -- SeraCare Life Sciences, a manufacturer and leading partner to global in vitro diagnostics manufacturers and clinical laboratories is announcing the launch of the industry’s first multiplexed Inherited Cancer reference material for inherited disease testing by next-generation sequencing (NGS). The Seraseq™ Inherited Cancer DNA Mix reference materials were developed with input from industry experts to validate the ability of synthetic reference materials to address technically challenging variants. This product leverages technology that has been previously used for characterizing the performance of a genetic assay for hypertrophic cardiomyopathy and published in the November 2016 issue of The Journal of Molecular Diagnostics.
As targeted inherited disease panels continue to expand, there is a growing demand for multiplexed reference materials that cover a broad range of pathogenic variants to expedite test development and validation. The traditional practice of using reference materials from public biobanks or remnant patient samples with single pathogenic variants can be extremely time consuming and expensive. The alternative is to use reference materials broadly characterized by whole genome sequencing, but these generally contain few, if any, clinically representative variants in commonly tested genes.
As has been shown in multiple clinical studies, a significant fraction of the pathogenic variants underlying genetic diseases can be technically challenging for current assay methods. These challenging variants include large sequence insertions and deletions, very small copy number alterations, and mutations in low complexity sequences. New reference materials containing multiple examples of such variants can aid test developers in implementing and rigorously validating innovative approaches that increase test sensitivity and improve medical decision making.
The Seraseq Inherited Cancer DNA Mix addresses the lack of multiplexed reference materials for targeted NGS assays and is focused on seven genes associated with inherited cancer syndromes, including BRCA1 and BRCA2. This unique product combines over 20 pathogenic variants of diverse types in a well-characterized genomic background that can be used for assay development and analytical validation.
“We are very excited to develop and launch this first of its kind multiplexed reference material with input from industry experts in the field of inherited disease. The inclusion of common, rare and technically challenging variants will expedite both the development and appropriate use of multi-gene inherited disease tests,” said Russell Garlick, Ph.D., Chief Scientific Officer at SeraCare. “Our innovative Seraseq Inherited Cancer DNA Mix reference materials can provide the assurance that test developers require, while also potentially enabling laboratories to monitor long-term performance that is simply not possible using remnant specimens or currently available cell lines.
Additional information about SeraCare’s Inherited Disease solutions is available at: https://www.seracare.com/about-us/customers/precision-medicine/inherited-disease/inherited-disease-solutions
Learn more about the Seraseq Inherited Cancer DNA Mix reference material at: https://www.seracare.com/products/controls-and-reference-materials/ngs-reference-materials-ruo/seraseq-inherited-cancer-dna-mix-v1/
About SeraCare Life Sciences Inc.
SeraCare enables the promise of precision medicine by advancing the understanding of disease and providing assurance of the diagnostic result. Our innovative tools and technologies not only ensure the safe, effective, and accurate performance of diagnostic assays but also establish a framework for regulating, compiling, and interpreting data from precision diagnostics. Our portfolio includes a broad range of products such as quality control technologies, disease-state specimens and tissues for research and development, processed biological materials, and immunoassay reagents. For more information, please visit www.seracare.com and follow SeraCare on Twitter (@SeraCare).