When it came time to start a family, Sarah Elizabeth Orlando, 33, knew she would go about it differently. Before she was born, an in-utero amniocentesis had confirmed she carried the gene for fragile ...

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 ...

Researchers have analyzed a sample of DNA believed to belong to Adolf Hitler, which they say reveals the dictator of Nazi Germany had a genetic marker for a rare disorder that can delay puberty, ...

A new consensus statement recommended genetic testing for all categories of kidney diseases whenever a genetic cause is suspected and offered guidance on who to test, which tests are the most useful, ...