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Definition

By Mayo Clinic staff

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes or alterations in your genes that may cause illness or disease.

Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.

Talking to your doctor or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.

References
  1. Handbook — Help me understand genetics. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/. Accessed May 7, 2013.
  2. Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed May 7, 2013.
  3. Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home. Accessed May 8, 2013.
  4. Grody WW, et al. ACMG position statement on prenatal/preconception expanded carrier screening. American College of Medical Genetics and Genomics. Genetics in Medicine. In press. Accessed May 8, 2013.
  5. Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. May 10, 2013.
MY00370 July 19, 2013

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