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Genetic Testing

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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

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