Inherited Disease


Next-generation sequencing (NGS) is being increasingly used to discover causative variants for a growing number of inherited disorders by analyzing multiple genes at a time. As this market continues to expand, there is a growing need for multiplexed reference materials to ensure the accuracy of assay results. This is especially critical as labs scale up their operations and need to develop, optimize, validate, and monitor ongoing assay performance.

Often labs resort to remnant patient samples or developing their own homebrew controls, however, these approaches are not robust, reliable or sustainable in the long run, especially in an environment of growing regulatory requirement for the use of relevant QC materials.

Biosynthetic DNA targets

By using engineered cell lines and biosynthetic DNA targets, SeraCare can produce highly multiplexed reference standards for the demands of highly multiplexed assays that current NGS platforms provide while acting as a patient-like sample. The ability to produce biosynthetic DNA with sequences that occur only rarely in patient samples solves the problem of sourcing these rare materials in limited supply.

NGS quality control

The Seraseq Inherited Cancer and Cardiomyopathy Reference Materials can be used as a quality control material for NGS assays that screen for a variety of inherited disease causing variants. As a key component in NGS quality control practices, these reference materials provide a consistent, reliable source of control material to assess performance across the entire workflow.

Reduce development, validation, and troubleshooting time and save money by running multiplexed reference materials for multiplexed assays with SeraCare’s customizable inherited disease controls.

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