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Inherited Disease

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

Boston-based Variantyx will expand its whole-genome sequencing testing method to oncology from rare inherited and neurological disorders.

Under the Ge-Med project, University Hospital Tübingen will offer diagnostic whole-genome sequencing for all genetic indications and will include PRS in its reporting.

The institute offers a rapid whole-genome sequencing test designed to diagnose infants and children suspected of having a rare genetic condition.

Later this year, the inherited cardiovascular disease clinic also plans to implement a preventive genomics program with polygenic risk score and PGx testing.

The firm has collaborated with Novartis to help pilot the new sickle cell disease test and a treatment in Ghana.