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The best definition of a genetic test comes from the US National Library of Medicine (USNLM):

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing:

  1. Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
  2. Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
  3. Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

Genetic Testing

  1. What is genetic testing?
  2. What are the types of genetic tests? 
  3. How is genetic testing done? 
  4. What is direct-to-consumer genetic testing? 
  5. How can consumers be sure a genetic test is valid and useful? 
  6. What do the results of genetic tests mean? 
  7. What is the cost of genetic testing, and how long does it take to get the results? 
  8. Will health insurance cover the costs of genetic testing? 
  9. What are the benefits of genetic testing? 
  10. What are the risks and limitations of genetic testing? 
  11. What is genetic discrimination? 
  12. How does genetic testing in a research setting differ from clinical genetic testing? 
  13. What is genetic ancestry testing? 

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  • NLM National Library of Medicine
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