What is it: Genetic diagnostic testing is performed on an individual who is suspected of having a specific genetic disorder. This individual may have symptoms of the disorder or may have a family history of the disorder.
When is it done: Diagnostic testing is appropriate in symptomatic individuals of any age. It is considered unethical to test asymptomatic children with a family history of adult-onset disorders unless early medical intervention is appropriate and necessary.
Benefits of testing: Confirming a diagnosis may alter medical management for the individual.
Other things to consider: The establishment of a diagnosis in an individual may have reproductive or psychosocial implications for other family members as well. It should also be noted that DNA testing or enzyme analysis may not always be the best way to establish a clinical diagnosis. For example, DNA mutational analysis for cystic fibrosis may miss rarer mutations but a sweat test is highly accurate.
