New research, led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai and published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects ...

If at least two of your close family members have had a brain aneurysm, genetic testing may help identify if you’re at risk. A brain aneurysm is a bulge in one of your brain’s blood vessels. The flow ...

Genetic testing is helping doctors identify rare diseases earlier, opening the door to treatment options before symptoms appear.

MINNEAPOLIS — By definition, a variant of unknown significance identified in an individual with cardiomyopathy can leave physicians wondering what to do with the information. Don’t discard so-called ...

Genetic testing for ATTR can detect transthyretin mutations and offer crucial information about risk, monitoring, and treatment, if needed. Transthyretin amyloidosis (ATTR) is a genetic condition that ...

OSAKA -- A woman from Osaka Prefecture with hereditary breast and ovarian cancer syndrome (HBOC) plans to apply for approval ...