Genetic testing helps us identify changes in chromosomes, genes, or proteins. Genetic test results can either confirm or rule out a suspected genetic condition or determine a person’s chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use with more being developed. There are several methods of genetic testing, including molecular genetic tests to study single genes or short lengths of DNA to identify mutations that could lead to a genetic disorder.
Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes that may cause a genetic condition. Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder. Genetic testing is voluntary. Since testing has benefits as well as limitations and risks, the decision to be tested is personal and complex. A geneticist or genetic counselor can provide information about the pros and cons of the test and discussing the social and emotional aspects of testing.
