Close Menu

Inherited Disease

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

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.

The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.

Under the agreement, the companies plan to offer combined genetic and biochemical testing services out of Blueprint's clinical laboratory in Seattle.

Feb
05
Sponsored by
LGC

This webinar will provide a behind-the-scenes look at the collaborative development of a novel multiplex assay to speed detection of mosquito-borne illness in the clinical setting.