Genetic testing

A procedure carried out to establish the presence or otherwise of a genetic disorder in an individual where there is a known family history or other evidence to suggest that a test is appropriate.

Such testing can be carried out for individuals who have a genetic disorder themselves, to aid their diagnosis and treatment (diagnostic testing), for those who may pass the gene to their offspring but show no effects themselves (carrier testing) or for those with no signs of a disorder but with a family history of progressive deafness (presymptomatic testing). Genetic testing can also be useful for individuals when the diagnosis is not clear and they may not in fact have a genetic disorder at all, for example when there is only a single deaf child in the family with no other family history.