News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.
PerkinElmer will provide biochemical and genetic testing to support BioMarin's testing program aimed at Batten disease and mucopolysaccharidosis disorders.
The effort, which will be the flagship project of the Children's Mercy Research Institute, aims to collect genomic data from 30,000 children and their families.
Revenues have begun to recover in Q3, driven by a ramp in SARS-CoV-2 testing, and the firm now expects full-year 2020 revenues to exceed its prior guidance.
The University of Michigan spinout will use the funds to develop its InheRET platform, increase integration with EHRs, as well as increase its workforce and userbase.
