Purpose of review: To review the role of genetic testing in the evaluation of hearing impairment in children.
Recent findings: The introduction of genetic testing has greatly enhanced the evaluation of deafness and hearing impairment in children. It can save time and money as well as providing patients, their families, and their physicians with important information; however, this testing is different from the medical testing that pediatricians typically order.
Summary: For patients and families to realize the benefits of genetic testing it must be done early in the evaluation process and must be accompanied by appropriate pretest and posttest counseling.