Diseases we screen for

Sema4 Expanded Carrier Screen is a highly accurate and comprehensive carrier test for more than 280 genetic diseases. It was specifically designed to screen for hereditary conditions across many different ethnicities. With our Expanded Carrier Screen, testing can be performed for more than 280 genes, a smaller subset of genes, or even just 1 gene. The Expanded Carrier Screen panel also includes 101 genes associated with Jewish founder mutations to provide comprehensive coverage for patients with Jewish ancestry. It screens for more diseases in the Ashkenazi population than any other Jewish carrier screen and is the first of its kind to address the largely overlooked needs of the Sephardi and Mizrahi Jewish populations. For details on which diseases are covered on our panels, please view our Expanded Carrier Screening Panel Guide.

Search or browse the list of conditions and/or genes