G. Bradley Schaefer, MD and Nancy J. Mendelsohn, MD; for the Professional Practice and Guidelines Committee

Genet Med advance online publication, 21 March 2013; doi:10.1038/gim.2013.32

In the Summary of the originally published version of this article, it was stated that “Advances in clinical testing technology have increased the diagnostic yield from 6–10% a few years ago to 30–90%.” The correct current diagnostic yield is 30–40%. Moreover, Table 5 was adapted from ref. 74, not 72. The publisher regrets these errors.