As targeted inherited disease panels continue to expand, there is growing demand for reference materials that cover a broad range of not only prevalent pathogenic variants, but also difficult-to-detect variants (such as large insertion/deletions) to expedite test development, perform comprehensive analytical validation, as well as to monitor routine assay performance. However, the traditional practice of using genomic reference materials (e.g. NA12878) and remnant patient samples that cover variants of interest can pose challenges for diagnostic laboratories as informative patient samples are often not publicly available and getting access to adequate numbers of samples can end up being time consuming and/or costly. Creating multiplexed reference samples that are tailored to specific disorders fills this void, especially in an environment of growing regulatory oversight.
The Seraseq Cardiomyopathy Reference Material combines ten common pathogenic and/or technically challenging variants in a single reference sample. The variants were chosen based on a careful review of clinical sequencing data obtained over ten years at LMM. Further, the final product configuration was determined based on proof-of-concept evaluation of two different design concepts and performance that was comparable to patient-derived data. This product combines HCM variants in a well-characterized genomic background at a 50% target allele frequency that can be used for assay development, analytical validation, or routine quality control.
"We are very excited to have developed, in collaboration with Dr. Birgit Funke of LMM, the first-of-a-kind multiplexed reference material for hypertrophic cardiomyopathy to expedite the adoption and accurate use of NGS-based inherited disease panels," said Russell Garlick, PhD, Chief Scientific Officer at SeraCare. "Using this technology, genomics laboratories around the world are able to characterize and monitor their assays using these highly multiplexed, rare, but clinically relevant variants in their assays. We are pleased our innovative Seraseq Cardiomyopathy Reference Material can provide the assurance in the results that LMM and others require, while also enabling them to monitor long-term performance that is simply not possible using remnant specimens or engineered cell lines."
About Partners HealthCare
Partners HealthCare is an integrated health system founded by Brigham and Women's Hospital and Massachusetts General Hospital. In addition to its two academic medical centers, the Partners system includes community and specialty hospitals, a managed care organization, community health centers, a physician network, home health and long-term care services, and other health-related entities. Partners HealthCare is one of the nation's leading biomedical research organizations and a principal teaching affiliate of Harvard Medical School. Partners HealthCare is a non-profit organization.
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 provide assurance of 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).
SeraCare Life Sciences, Inc.
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SOURCE SeraCare Life Sciences, Inc.