Genetic Testing - Importance and Applications

Genetic testing involves analyzing an individual's DNA to identify genetic variations associated with inherited disorders or traits.
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Application
Genomics | Inherited Disorders | Precision Medicine | DNA Analysis | Genetic Disorders | Ancestry Testing
Prepared by Shruti Sahoo, reviewed by Dr. Eugene Smith

Genetic Testing FAQ


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What is a genetic test?

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, 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.

What is a biochemical genetic test?

Proteins: Biochemical genetic tests study the amount or activity level of proteins or enzymes; 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.

How does genetic testing work?

Everyone has a unique genome, made up of the DNA in all of a person's genes. This complex testing can help identify genetic variants that may relate to your health. This testing is usually limited to just looking at the protein-encoding parts of DNA called the exome.

When is genetic testing used?

In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person's life, but is not available for all genes or all genetic conditions.

Genetic Testing References

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