Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

A randomized clinical trial from France revealed similar miscarriage rates in women who had cell-free DNA screening for trisomy 21 prior to invasive testing.

The startup's first test focuses on diagnosing 60 conditions for which treatment is available.

A panel led by the FH Foundation recommends routine genetic testing for those with very high LDL cholesterol and a family history of high cholesterol or early heart attack.

With funding from Bill Gates and others, the Diagnostics Accelerator aims to support the development of new biomarkers for the early detection of Alzheimer's.

As part of the collaboration, B. Braun China founded a subsidiary, called B. Braun Precision Medicine Technology (BBPM), that opened in Shanghai in May.