Genetic testing is a medical test that is carried out to identify changes in chromosomes, proteins, or genes. The results of genetic testing help to rule out or confirm a suspected genetic condition. The results also help to determine the likelihood of a person to pass on or develop a genetic disorder. Over 1,000 tests are in use today, and more are being developed.
There are three main methods that are used for genetic testing: gene tests, chromosomal genetic tests, and biochemical genetic tests. Gene tests (or molecular genetic tests) study short lengths of DNA or single genes to identify mutations or variations that lead to a genetic disorder. Chromosomal genetic tests study long lengths of DNA or whole chromosomes to see whether there are large genetic changes that cause a genetic condition. Finally, biochemical genetic tests examine the activity level or amount of proteins; any abnormality in either can show alterations to the DNA that causes a genetic disorder.
Genetic testing is done on a voluntary basis. Since the testing has benefits as well as risks and limitations, the decision about whether to take the test is a personal one. Genetic counsellors or geneticists can provide you with information about the advantages and disadvantages of the test. They can also help you to understand the emotional and social aspects of testing.