SeraCare Life Sciences, Milford, Mass, has expanded its suite of clinical genomics development, validation, and quality control tools with the launch of Seraseq myeloid DNA and myeloid RNA fusion reference materials. The reference standards were developed to help ensure the sensitivity and robustness of next-generation sequencing (NGS) based assays focused on myeloid cancers. The products are built with the same 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 and chronic myeloid leukemia are estimated to affect millions of people around the world. Molecular analysis of myeloid cancers is rapidly shifting from such traditional singleplex methods as fluorescence in situ hybridization and quantitative polymerase chain reaction to highly multiplexed NGS assays.

To help clinical labs performing NGS-based myeloid testing understand and characterize their assays, SeraCare has developed the Seraseq myeloid mutation DNA mix and Seraseq myeloid fusion RNA mix, a set of comprehensive myeloid cancer NGS reference materials. The products include a wide range of mutation types, from simple but clinically important single nucleotide variants, to gene fusions.

Trevor Brown, MSc, SeraCare.

Trevor Brown, MSc, SeraCare Life Sciences.

“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,” says Trevor Brown, MSc, vice president of the clinical genomics business unit at SeraCare.

To maximize compatibility with existing and emerging myeloid assays, the new products contain 23 DNA mutations, including fms-like tyrosine kinase-3 gene internal tandem duplications (FLT3 ITDs) and nucleophosmin-1 (NPM1) mutations, together with nine fusion RNAs, including BCR-ABL and promyelocytic leukemia-retinoic acid receptor alpha (PML-RARA). Variants are present against a single well-characterized genomic background (GM24385) at clinically relevant allele frequencies that are precisely quantified using highly sensitive digital polymerase chain reaction assays.

Bob Daber, PhD, Gnosity Consults.

Bob Daber, PhD, Gnosity Consults.

“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,” says Bob Daber, PhD, founder of Gnosity Consults LLC, Farmingdale, NJ, who contributed to the design of the product. “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.

“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,” adds Daber.

For more information, visit Seracare.