Genetic testing and screening

Genetic tests are tests on blood and other tissue to find genetic disorders. About 900 such tests are available.

Doctors use genetic tests for several reasons. These include:

  • Finding possible 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
  • Confirming a diagnosis in a person who has disease symptoms.

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


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