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Inherited Disease

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

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.

The company provided updates on its newborn screening testing presence.

Dec
19
Sponsored by
Qiagen

This webinar will provide a first-hand look at how a clinical lab evolved its tumor profiling workflow from a targeted panel approach toward comprehensive genomic profiling.