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SpeeDx PlexPrime SARS-CoV-2 Genotyping

SpeeDx has launched a SARS-CoV-2 variant analysis assay for research use only. The PlexPrime SARS-CoV-2 Alpha/Beta/Gamma+ assay is a single-well multiplex test designed to detect mutations N501Y, S982A, and E484K in the spike gene of SARS-CoV-2. These mutations are found in the alpha (B.1.1.7), beta (B.1.351), and gamma (P.1) variants of concern. The test is compatible with standard qPCR instrumentation. It can potentially reduce the manual process of preparing positive samples for sequence analysis by identifying samples of interest, ultimately reducing turnaround and hands-on time, the company said. The firm also plans to launch a multiplex assay for mutations related to the delta variant, and is currently assessing other mutations.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.