The Mount Sinai Genetic Testing Lab, housed in the Department of Genetics and Genomic Sciences and led by Executive Director Lisa Edelmann, worked closely with clinical geneticists who see patients for rare diseases, as well as the bioinformatics team at the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai, to create a line of new tests that help inform couples of their risk of having a child with a genetic disorder.

“Our mission is to assist prospective parents and provide the most comprehensive knowledge available regarding these risks. We have invested years of population-based research and technology adaptation in our clinical laboratory to create tests that not only expand the number of diseases screened, but also increase the breadth of coverage, to improve carrier detection rates and provide more accurate residual risk estimates to patients,” said Lisa Edelmann, PhD, Executive Director of the Mount Sinai Genetic Testing Laboratory.

NextStep carrier screening combines next-generation sequencing with five other technologies to ensure the highest possible detection rate for 281 genes that are associated with hereditary disorders. A smaller subset of this panel is termed the Comprehensive Jewish Carrier Screening Panel and consists of 96 disorders. This panel screens for more diseases in the Ashkenazi population than any other Jewish carrier screen on the market and addresses the largely overlooked needs of the Sephardi and Mizrahi Jewish populations.

The Mount Sinai Genetic Testing Laboratory provides telephone genetic counseling to discuss results and recommendations directly with patients. If the results suggest that a patient’s reproductive partner should also be tested, the lab will coordinate that process. The NextStep line of tests has been validated on saliva, in addition to blood, so that a specimen can be collected in one’s home and sent directly to the lab via prepaid FedEx mailer provided in a saliva specimen collection kit, offering added convenience to the reproductive partners of individuals identified as carriers.

For more information, visit www.nextsteptest.com.