Sema4 Expanded Carrier Screen

Comprehensive and accurate screening of 283 genes, powered by advanced sequencing technologies

Sema4 Expanded Carrier Screen (ECS) is a comprehensive carrier test that screens for more than 280 genetic diseases with >95% accuracy. This panel also includes 101 genes associated with Jewish founder mutations for comprehensive coverage for patients with Jewish ancestry.

Nine advanced genetic technologies are used in parallel to ensure the highest detection rate for each gene based on gene-specific mutation mechanism. Our Expanded Carrier Screen 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 Expanded Carrier Screen, carrier screening may be easily customized to address specific clinical needs. Testing can be performed for all 283 genes, a smaller subset of genes, or even just one gene.

How to order Sema4 Expanded Carrier Screen

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 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 the following shipping address:

MONDAY-SATURDAY DELIVERY
Mount Sinai Genetic Testing Laboratory
Atran Laboratory Building, Room 2-25
1428 Madison Avenue
New York, NY 10029