Sema4 NIPT and Expanded Carrier Screening Tests

Sema4 has launched a noninvasive prenatal test and an expanded carrier screening test, which it developed using its Sema4 Health Intelligence Platform. The NIPT is available in three options: a standard panel that tests for trisomies 21, 18, and 13; a standard plus panel that also includes trisomies 15, 16, and 22, as well as sex chromosome aneuploidies; and an expanded panel that includes all of the above plus some microdeletions.

The expanded carrier screen can test more than 280 genes, including 101 genes associated with Jewish founder mutations. Patients also have the option of analyzing a smaller subset of genes.