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Genetic Testing

Summary

Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include

  • Finding genetic diseases in unborn babies
  • Finding out if people carry a gene for a disease and might pass it on to their children
  • Screening embryos for disease
  • Testing for genetic diseases in adults before they cause symptoms
  • Making a diagnosis in a person who has disease symptoms
  • Figuring out the type or dose of a medicine that is best for a certain person

People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.

NIH: National Human Genome Research Institute

Start Here

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Related Issues

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  • From the National Institutes of Health (National Library of Medicine)
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  • From the National Institutes of Health (National Library of Medicine)

Specifics

  • BRCA Test From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • (American College of Obstetricians and Gynecologists) - PDF
  • From the National Institutes of Health (National Cancer Institute) Also in
  • From the National Institutes of Health (National Cancer Institute)
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  • (American Heart Association)
  • Pharmacogenetic Tests From the National Institutes of Health (National Library of Medicine) Also in Spanish
  • (American College of Obstetricians and Gynecologists)
  • (American College of Obstetricians and Gynecologists)
  • Infographic (American College of Obstetricians and Gynecologists) - PDF
  • From the National Institutes of Health (National Library of Medicine)
  • From the National Institutes of Health (National Library of Medicine)

Videos and Tutorials

  • Video (College of American Pathologists)

Statistics and Research

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Striking laughter

  • From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Reference Desk

  • From the National Institutes of Health (National Center for Biotechnology Information)
  • (Centers for Disease Control and Prevention)
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Find an Expert

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Patient Handouts