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What is genetic testing?


What is genetic testing?

Genetic testing is a medical test that identifies changes in genes, chromosomes, or proteins. The results of genetic testing can confirm or rule out suspected genetic conditions, or help determine a person's chance of developing or inheriting a genetic disorder. More than 77,000 genetic tests are currently in use, with additional tests in development.


Genetic testing involves looking for changes in:

Genetics: Genetic tests study DNA sequences to identify variants (mutations) in genes that may cause or increase the risk of genetic disease. Genetic tests can be narrow or large, analyzing individual DNA building blocks (nucleotides), one or more genes, or all of a person's DNA (called their genome).

Chromosomes: Chromosomal genetic testing analyzes entire chromosomes, or very long DNA lengths, to see if there are large genetic changes, such as extra copies of chromosomes, that cause genetic disorders.

Proteins: Biochemical genetic tests study the amount or activity levels of proteins or enzymes; abnormalities in either of the two may indicate changes in the DNA that cause genetic disorders.

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

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