SeraCare Announces Industry's First Comprehensive NGS Reference Material for Hematologic Malignancies

Truth-set NGS reference materials to significantly advance validation and QC of myeloid assays

MILFORD, Mass., Nov. 8, 2017 /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 SeraseqTM Myeloid DNA and Myeloid RNA fusion reference materials: the industry's first comprehensive reference standards to help ensure the sensitivity and robustness of next-generation sequencing (NGS) based assays focused on myeloid cancers. These expert-designed products are built with the same innovative biosynthetic technology that powers SeraCare's patient-like NGS reference materials for tumor profiling and inherited disease testing.

Blood cancers, such as acute myeloid leukemia (AML) and chronic myeloid leukemia (CML), are estimated to affect millions of people around the world, but current diagnosis methods are time-consuming and expensive. Molecular analysis of myeloid cancers is rapidly shifting from traditional singleplex methods such as FISH and qPCR, to highly multiplexed NGS assays. To ensure confidence in assay performance across the diverse types of mutations prevalent for myeloid cancers, clinical labs need to overcome the challenge of sourcing relevant mutations and the high expense associated with singleplex samples such as residual patient specimens and cell lines.

To help clinical labs performing NGS-based myeloid testing thoroughly understand and characterize their assays, SeraCare has developed the Seraseq Myeloid Mutation DNA Mix and Seraseq Myeloid Fusion RNA Mix, the first set of comprehensive myeloid cancer NGS reference materials. These unique products include a wide range of mutation types, from simple but clinically important SNVs, to gene fusions. To maximize compatibility with existing and emerging myeloid assays, the new products contain 23 DNA mutations (including FLT3 ITDs and NPM1) along with nine fusion RNAs (including BCR-ABL and PML-RARA). Variants are present against a single well-characterized genomic background (GM24385) at clinically relevant allele frequencies which are precisely quantified using highly sensitive digital PCR assays.

"As laboratorians develop and validate assays for hematologic malignancies, it is critical that they establish and demonstrate the true analytical performance characteristics of these assays.  However, the lack of readily available materials that cover a wide range of meaningful variants at relevant allele frequencies, for both DNA and RNA, make this challenging," said Bob Daber, PhD and founder of Gnosity Consults, LLC, who contributed to the design of the product. "The Seraseq myeloid NGS reference materials will greatly expedite the validation of these assays to ensure they are up and running quickly while also being confident in their ability to detect the challenging mutations, with the ultimate end-goal of driving accurate diagnosis and effective patient management."

"With the release of the industry's first comprehensive NGS reference materials for myeloid cancers, we expand 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, 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 of the Clinical Genomics Business Unit at SeraCare.