Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. Their results can confirm or rule out a possible genetic condition or help determine the likelihood that a person will develop or pass on a genetic disorder. More than 77,000 genetic tests are currently in use, while others continue to be developed.

Genetic testing involves looking for changes in:

  • Genes: Gene tests analyze DNA sequences to identify variations (or mutations) that may cause or increase the risk of a genetic disorder. Gene testing can be narrow or broad in scope, looking at a single DNA building block (nucleotide), one or more genes, or all of a person’s DNA (called the genome).
  • Chromosomes: Chromosomal genetic tests look at whole chromosomes or long lengths of DNA to look for large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition
  • Proteins: Biochemical genetic tests study the amount or level of activity of proteins or enzymes. Abnormalities in any of these may indicate changes in the DNA that result in a genetic disorder.

Undergoing genetic testing is voluntary. Because testing has benefits as well as limitations and risks , the decision of whether to get tested is a personal one with several variables. A geneticist or genetic counselor can help by providing information about the pros and cons of a test and guidance on the social and emotional aspects of testing.

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