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Inherited Disease

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

The insurer will cover testing at the Rady Children's Institute for Genomic Medicine for children in intensive care with unexplained medical conditions.

Public Health England will use the company's Victor EnLite instrument and EnLite Neonatal TREC kit at three of six sites to evaluate screening newborns for "Bubble Boy" disease.

The deal provides whole-genome sequencing for patients with rare diseases or cancer and could make sequencing part of the standard of care for NHS England.

Invitae will provide genetic testing for 109 genes associated with the conditions, while BioMarin will provide financial support for the program.

The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood.