Mount Sinai Genetic Testing Laboratory Launches New Carrier Screening Product Line

Share Article

New Genetic Screening Tests lead the carrier screening market in breadth and depth

The Icahn School of Medicine at Mount Sinai today announced the launch of a range of new carrier screening tests, NextStep Carrier Screening, which are market leading in terms of breadth and depth of coverage. The new tests, offered by the Mount Sinai Genetic Testing Laboratory include a pan-ethnic carrier screen for 281 diseases, the largest currently available. The NextStep line includes a Comprehensive Jewish Panel of 96 diseases, the first of its kind to address the majority of different Jewish populations, including a Sephardi-Mizrahi panel of 48 disorders. These new carrier screening tests will help prospective parents more effectively identify whether they carry certain genetic mutations that would affect their offspring.

“Our mission is to assist prospective parents and provide the most comprehensive knowledge available regarding their risk of having a child affected with a genetic disease. 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 utilizes six testing technologies in parallel to ensure the highest detection rate for each genetic disease. Furthermore, building on years of in-house genetic research, Mount Sinai Genetic Testing Lab is the only lab in the world that offers a carrier screening panel for individuals of Sephardi or Mizrahi Jewish background.

“We leveraged our expertise with next-generation DNA sequencing in concert with several other state-of-the-art technologies to deliver the best available carrier screening tests to our physicians and their patients,” said Eric Schadt, PhD, the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, and Founding Director of the Icahn Institute for Genomics and Multiscale Biology.

“Mount Sinai continues to stay at the forefront of world-class reproductive medicine with these enhanced carrier screening tests. The comprehensiveness and accuracy of these new panels can provide our physicians and their patients with the information they need to make crucial care decisions,” said Michael Brodman, MD, Chair of the Department of Obstetrics, Gynecology and Reproductive Science at the Mount Sinai Health System.

The NextStep line of tests can be ordered directly from the Mount Sinai Genetic Testing Lab, and will also be distributed via third-party clinical laboratories to facilitate access to more comprehensive carrier screening for as many people as possible.

“The launch of these new carrier screening panels is the perfect example of our focus at Mount Sinai to improve patient care through the rapid deployment of research and technological advances into clinical practice,” said Dennis S. Charney, MD, Anne and Joel Ehrenkranz Dean of the Icahn School of Medicine at Mount Sinai and President for Academic Affairs for the Mount Sinai Health System.

Patients and healthcare providers can learn more about NextStep Carrier Screening by visiting

About the Mount Sinai Health System
The Mount Sinai Health System is an integrated health system committed to providing distinguished care, conducting transformative research, and advancing biomedical education. Structured around seven hospital campuses and a single medical school, the Health System has an extensive ambulatory network and a range of inpatient and outpatient services—from community-based facilities to tertiary and quaternary care.

The System includes approximately 6,100 primary and specialty care physicians; 12 joint-venture ambulatory surgery centers; more than 140 ambulatory practices throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and 31 affiliated community health centers. Physicians are affiliated with the renowned Icahn School of Medicine at Mount Sinai, which is ranked among the highest in the nation in National Institutes of Health funding per investigator. The Mount Sinai Hospital is nationally ranked as one of the top 25 hospitals in 8 specialties in the 2014-2015 “Best Hospitals” issue of U.S. News & World Report. Mount Sinai’s Kravis Children’s Hospital also is ranked in seven out of ten pediatric specialties by U.S. News & World Report. The New York Eye and Ear Infirmary of Mount Sinai is ranked nationally, while Mount Sinai Beth Israel, Mount Sinai St. Luke’s, and Mount Sinai Roosevelt are ranked regionally.

For more information, visit or find Mount Sinai on Facebook, Twitter and YouTube.

Share article on social media or email:

View article via:

Pdf Print

Contact Author

Sid Dinsay
Mount Sinai Health System
+1 (212) 241-9200
Email >