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Inherited Disease

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

Blueprint Genetics, recently acquired by Quest Diagnostics in January, will base the 600-gene panel on its whole-exome sequencing capability.

Invitae will provide free genetic testing on a 53-gene panel and counseling to patients suspected of having an LSD to facilitate earlier diagnosis and appropriate treatment.

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.