Introducing Sema4 Expanded Carrier Screen

Simple, comprehensive, and accurate screening of 281 genetic conditions, powered by 6 next-generation sequencing technologies.

Sema4 Expanded Carrier Screen (ECS) is a comprehensive carrier test designed to screen for 281 genetic diseases with 99% accuracy. This panel including a Comprehensive Jewish Carrier Screen for 96 conditions, which tests 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.

Six advanced genetic technologies are used in parallel to ensure the highest detection rate for each gene based on gene-specific mutation mechanism. Sema4 ECS primarily utilizes a next-generation sequencing (NGS) platform. It also incorporates accessory technologies for genes that are not amenable to NGS, including genotyping, Sanger sequencing, enzyme analysis, capillary electrophoresis, and MLPA.

With Sema4 ECS, carrier screening may be easily customized to address specific clinical needs. Testing can be performed for all 281 diseases, a smaller subset of diseases, or even just one condition.

How to order Sema4 ECS

When ordering a genetic screen, please include the appropriate test requisition and consent forms, along with your patient’s specimen. Please also indicate how you would prefer to receive the test results. We can send the results by mail, fax, phone, secure email, or online web portal.

There are several options available for specimen pick up. For practices located in the New York City area, we work with local courier services to transport specimens to our lab for quick processing. To confirm that you are located within our service area and to arrange a pick up, please call us at 800-298-6470.

If your office is located outside of our service area, please arrange for overnight delivery of your specimen to one of the following shipping addresses:

Mount Sinai Genetic Testing Laboratory
Atran Laboratory Building, Room 2-25
1428 Madison Avenue
New York, NY 10029
Mount Sinai Outreach/Genetics
1425 Madison Ave
8th Floor, Room 872
New York, NY 10029