Genetic testing looks for changes in someone's genes. Gene changes can cause genetic illnesses (also called genetic disorders).
The purpose of a genetic test is to look for specific inherited changes (which are mutations) in a person's chromosomes, proteins, or genes. These changes can be beneficial, harmful, neutral (producing no effect), or of an uncertain nature.
Genetic tests are usually ordered by a doctor. The test is done on a small sample of body fluid or tissue, usually blood but sometimes saliva, inner cheek cells, skin, or amniotic fluid. The sample is sent to a laboratory that specializes in genetic testing.
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