HANDBOOK: Help me Understand Genetics: Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a persons chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed. Several methods can be used for genetic testing Molecular genetic tests or gene tests study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder. Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that 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.