News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.
Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.
The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.
The assessment incorporates different ethnic backgrounds, but debate continues among researchers on the utility of polygenic risk scores for diabetes.
A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.
