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Inherited Disease

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

Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.

The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.

Invitae will perform genetic testing using a 58-gene panel and Horizon will provide financial support for the program aimed at improving diagnosis of the rare condition.

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.