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Why it's done
By Mayo Clinic staffSeveral types of genetic testing are done for different reasons:
- Diagnostic testing. If you have symptoms of a disease that may be caused by genetic alterations, genetic testing can reveal if you have the suspected disorder. Examples of disorders for which genetic testing may be used to confirm a diagnosis include adult polycystic kidney disease, iron overload (hemochromatosis) and Charcot-Marie-Tooth disease.
- Presymptomatic testing. If you have a family history of a genetic condition, undergoing genetic testing before you have symptoms may show if you're at risk of developing that condition.
- Carrier testing. If you or your partner has a family history of a genetic disorder, such as sickle cell anemia or cystic fibrosis, you may choose to have genetic testing before you have children. Genetic testing can determine if you carry a copy of an altered gene that would put a child at risk of developing the disorder.
- Prenatal testing. If you are pregnant, tests are available that can detect abnormalities in your fetus's genes. Spina bifida and Down syndrome are two genetic disorders that health care providers often screen for using prenatal genetic testing.
- Newborn screening. This is the most common type of genetic testing. In many states, it's required that all newborns be tested for gene abnormalities that cause specific conditions, such as congenital hypothyroidism and phenylketonuria. This type of genetic testing is important because if a disorder is found, care and treatment can begin right away.
References
- Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed Nov. 3, 2008.
- Genetics home reference: Genetic testing handbook. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/handbook/testing/genetictesting. Accessed Nov. 3, 2008.
- Hunter DJ, et al. Letting the genome out of the bottle — Will we get our wish? The New England Journal of Medicine. 2008;358:106.
- Ensenauer RE, et al. Medical genomics: Primer on medical genomics part VIII: Essentials of medical genetics for the practicing physician. Mayo Clinic Proceedings 2003;78:846.
- Gene testing: Human Genome Project information. Human Genome Program. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml. Accessed Nov. 3, 2008.
- Kaye CI. Newborn screening fact sheets. Pediatrics. 2006;118:934.
- Pinksy, L. Overview of genetic assessment. http://www.uptodate.com/home/index.html. Accessed Nov. 3, 2008.
- Genetic testing: What it means for your health & for your family's health. National Human Genome Research Institute. http://www.genome.gov/Pages/Health/PatientsPublicInfo/GeneticTestingWhatItMeansForYourHealth.pdf. Accessed Nov. 3, 2008.
- Understanding cancer series: Gene testing. National Cancer Institute. http://www.cancer.gov/cancertopics/understandingcancer/genetesting. Accessed Nov. 12, 2008.
