Doctors use genetic testing to:

  • Predict or diagnose genetic disorders caused by the mutation of genes
  • Determine a patient's level of risk
  • Confirm a diagnosis
  • Help a patient's doctor to devise a treatment plan
  • Determine whether a fetus is at risk of genetic disorders or physical deformities
  • Test newborns for genetic disease
  • Test potential parents to determine whether they carry genes for a disease that could be passed to children

Testing usually requires a blood sample — or in some cases a sample of hair, skin or other tissue. The samples are sent to a lab for analysis. Later, a genetic counselor will review the test results with the patient. Results are not always 100 percent accurate. For example, in many cases genetic testing can give only an idea of the risk of developing certain conditions. However, genetic testing is invaluable for helping people with a history of certain medical conditions (and other people as well) plan for the future by understanding their health risks.