Mount Sinai Genetic Testing Laboratory Partners with Counsyl to Expand Screening for Genetic Diseases
Genetic screening tests for more than 100 disorders are available with on-site counseling.
The Mount Sinai Genetic Testing Laboratory (MGTL) has announced a partnership with Counsyl to expand options for prospective parents, for preconception and prenatal genetic screening for a greater number of recessive diseases.
New tests developed by Counsyl, a genomic technology company founded by Stanford University graduates, include carrier screening for conditions such as Smith-Lemli-Opitz, Carnitine Palmitoyltransferase II Deficiency, GJB2-Related DFNB 1 nonsyndromic hearing loss and deafness, and certain forms of limb-girdle muscular dystrophy. Ramji Srinivasan, CEO of Counsyl, said, "As a New York native, I find it personally gratifying to be working with Mount Sinai to make carrier testing available to anyone planning to have children. Mount Sinai has built an incredible reputation in genetic screening, and we're thrilled to partner with them."
Lisa J. Edelmann, PhD, Director, Mount Sinai Genetic Testing Laboratory, said: "This new partnership between Mount Sinai and Counsyl will facilitate access to carrier screening for many more recessive genetic diseases and some of the more common X-linked diseases, so that couples can learn about potential risks at the pre-pregnancy stage to inform reproductive decision-making. Mount Sinai offers prenatal diagnostic testing in combination with on-site expert genetic counseling, thus providing a comprehensive and convenient service for patients and providers." Mount Sinai also provides additional prenatal testing on site, such as rapid 24-hour aneuploidy fluorescent in situ hybridization (FISH) testing, chromosome analysis, and array- comparative genomic hybridization.
Mount Sinai's genetic testing laboratory, part of the Icahn School of Medicine at Mount Sinai, already offers a comprehensive set of screening options for more than 100 disorders, including a cystic fibrosis mutation panel, spinal muscular atrophy test, Tay-Sachs enzyme analysis, and an expanded Ashkenazi Jewish panel. The lab has been a leader in carrier screening for Ashkenazi Jewish genetic disorders and was the first to offer carrier screening for Walker-Warburg Syndrome in this population.
Lawrence Grunfeld, MD, Clinical Associate Professor of Obstetrics, Gynecology and Reproductive Science at the Icahn School of Medicine at Mount Sinai and Co-Director of Reproductive Medicine Associates of New York, recently began providing the expanded genetic screening tests from Mount Sinai and Counsyl to his patients. Dr. Grunfeld commented, "Our expanding understanding of genetics has made the old-fashioned genetic testing obsolete. We can now detect and prevent more and more diseases. Our relationship with Mount Sinai and Counsyl offers our patients state-of-the-art detection of inherited genetic diseases to allow for more informed reproductive decisions."
For more information on genetic counseling and testing at Mount Sinai, visit www.mssm.edu/genetictesting
About The Mount Sinai Medical Center
The Mount Sinai Medical Center encompasses both The Mount Sinai Hospital and Icahn School of Medicine at Mount Sinai. Established in 1968, Mount Sinai School of Medicine is one of the leading medical schools in the United States. The Medical School is noted for innovation in education, biomedical research, clinical care delivery, and local and global community service. It has more than 3,400 faculty in 32 departments and 14 research institutes, and ranks among the top 20 medical schools both in National Institutes of Health (NIH) funding and by U.S. News & World Report.
The Mount Sinai Hospital, founded in 1852, is a 1,171-bed tertiary- and quaternary-care teaching facility and one of the nation’s oldest, largest and most-respected voluntary hospitals. In 2012, U.S. News & World Report ranked The Mount Sinai Hospital 14th on its elite Honor Roll of the nation’s top hospitals based on reputation, safety, and other patient-care factors. Mount Sinai is one of 12 integrated academic medical centers whose medical school ranks among the top 20 in NIH funding and by U.S. News & World Report and whose hospital is on the U.S. News & World Report Honor Roll. Nearly 60,000 people were treated at Mount Sinai as inpatients last year, and approximately 560,000 outpatient visits took place.
Counsyl is dedicated to making the human genome practically useful for life-altering decisions. Counsyl started by making a pre-pregnancy genetic test affordable for anyone planning to have a child. That test won the Wall Street Journal’s Innovation Award for Medicine, was named one of Scientific American's "Top 10 World Changing Ideas" and was featured in the New York Times. The Counsyl test is now offered at thousands of medical centers nationwide and covered by many insurers. For more information, visit www.counsyl.com.