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rare disease

The German company offers rare disease genetic tests and services for clinical applications, as well as to support drug discovery and development programs.

The firm is looking to expand its sales internationally, as well as in the consumer-initiated market, but is being conservative with revenue growth estimates.

The German company offers rare disease genetic tests and services for clinical applications and to support clients' drug discovery and development programs.

The company was originally founded as a spinoff from Korean genomic services provider Macrogen to offer direct-to-consumer genomic rare disease screening tests.

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.

The agency said its guidance provides transparency about a Humanitarian Device Exemption pathway associated with rare diseases affecting up to 8,000 people.

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.

Centogene said it will conduct molecular diagnostic testing using deletion/duplication analysis and full-length sequencing of the DMD gene.

As part of the collaboration, Belgium-based Diploid will integrate Genomenon's Mastermind genomic search engine into its Moon diagnostic software.

Through the Alnylam Act program, patients suspected of having the rare disease or with a family history of the illness will receive testing at no cost.

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