NEW YORK (GenomeWeb News) – The Mount Sinai Genetic Testing Laboratory has teamed with Counsyl to offer new combined options for carrier screening testing aimed at prospective parents and for prenatal testing for recessive diseases, MGTL said today.
Counsyl offers screening tests for conditions such as Smith-Lemli-Optiz, carnitine palmitoyltransferase II deficiency, certain types of hearing loss and deafness, and forms of limb-girdle muscular dystrophy.
MGTL, which is part of the Icahn School of Medicine at Mount Sinai Hospital in New York, currently offers screening options for more than 100 diseases, including a cystic fibrosis mutation panel, spinal muscular atrophy test, Tay-Sachs enzyme analysis, and an expanded Ashkenazi Jewish panel. It also provides prenatal testing on-site, including aneuploidy fluorescent in situ hybridization testing, chromosome analysis, and array-comparative genomic hybridization.
This new partnership 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," MGTL Director Lisa Edelmann said in a statement.