Invitae Immunologic, Metabolic, Newborn Screening Confirmation Panels

Invitae announced it has added 80 new panels and updated 24 panels for the diagnosis of inherited immunologic and metabolic disorders, as well as panels that confirm diagnoses suggested by newborn screening. Some of these offerings include new and updated lysosomal storage disorder panels covering 52 genes; an updated, 90-gene newborn screening confirmation panel; a new panel of 133 genes for diagnosing treatable neurometabolic disorders; a new panel of more than 200 genes linked to primary immunodeficiencies; and a new 46-gene panel for associated monogenic forms of inflammatory bowel disease. Additionally, the firm includes deletion/duplication analysis at no extra charge in an effort to identify between 5 percent and 10 percent of pathogenic variants that are difficult to gauge with next-generation sequencing.