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Introduction to genetic testing

What is a genetic test?

A genetic test is a type of medical test that is used to identify variations (known as mutations) in a person’s genes. Genes are regions of DNA that carry the information needed for the cells in a person’s body to carry out a particular function or show a particular characteristic.

Why is genetic testing a potentially powerful tool in medicine?

Every person has mutations in their genes. These mutations add to the uniqueness of individuals and most are not harmful. In fact, some mutations can be protective. However, there are some mutations in the DNA that a person is born with that can result in genetic conditions. Some conditions can cause serious health problems, which can arise at birth, childhood, adolescence, adulthood or very late in life.

Genetic testing information can be used to confirm or rule out a genetic condition. Results of genetic tests can also be used to work out the likelihood that a person will develop a disorder and/or pass on a genetic condition to his or her children. The same genetic test may be done for different purposes, such as for research1, or to diagnose.

What does a genetic test involve?

A genetic test involves taking a sample of your DNA, generally from a swab of saliva or a sample of blood.  This is normally done by your doctor. The sample is then sent to a laboratory where it is checked for mutations. Test results are then sent back to your doctor, who will discuss them with you.

Footnotes

  1. On occasion, individuals may consent to participating in research studies in which genetic testing is performed.  NHMRC’s National Statement on Ethical Conduct in Human Research (2007) provides guidance on the use of genetic testing in human research.

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Page reviewed: 19 May, 2014