Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. The results of a genetic test can be used to confirm or rule out a suspected genetic disease or to determine the likelihood of a person passing on a mutation to their offspring. Genetic testing may be performed prenatally or after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.


Genetic testing is laboratory testing that most often is conducted on a blood sample or maybe a cheek swab sample--that is, cells from the inside lining of your cheek--used to test for genetic variations that are associated with hereditary or genetic disease. So the results of a genetic test can be used to confirm or possibly rule out a suspected disease in an infected person. Alternatively, genetic testing can also be done to see if a person is at high risk for a disease that exists in their family. So, for hereditary conditions such as hereditary cancer syndromes or neurological disease... Genetic testing is possible at any point in life; during a pregnancy through adulthood. And ideally, anyone who undergoes genetic testing would have the opportunity to talk about the meaning of the test, the potential benefits and risks of having such a test done, with a genetics professional, well in advance of making a decision about whether they want to pursue a test or not.

- Donald W. Hadley, M.S., C.G.C.