What is Genetic Testing?

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  • Written By: Kathy Hawkins
  • Edited By: Bronwyn Harris
  • Last Modified Date: 19 October 2019
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Genetic testing is a scientific process that allows an individual to determine whether he is susceptible to particular types of diseases, or whether he is likely to pass on an inherited disease or trait. Genetic testing works by studying the individual's DNA; certain chromosomes can reveal important information about health and disease. The process is voluntary, and can be used for a range of different purposes.

One fairly common type of genetic testing is prenatal testing, in which a doctor will screen a fetus to see if it has a genetic or chromosomal disorder, such as Down's syndrome. Prenatal testing is common in mothers over 35, who are at higher risk of giving birth to children with mental disabilities. In some cases, the negative results of genetic testing done on the fetus will influence the parents to terminate the pregnancy.

Another form of genetic testing is common in newborn babies. Newborn screening can identify conditions that are likely to affect young children, many of which can be dangerous if left untreated. Throughout the United States, there are several genetic screening tests that must be done on every newborn.


For adults, one of the most frequent types of testing is carrier testing, in which tests reveal whether a genetic disease will occur. For some diseases, like Huntington's Disease, a test can show with absolute certainty whether or not the individual will get it. These tests are commonly performed on people who have a family history of a particular genetic disease or disorder.

In one type of genetic testing, pre-implantation testing, parents can take control over the fetus' genetic structure. In this process, several embryos are implanted through in-vitro fertilization. After the eggs have begun to develop, a doctor can sample their genetic material to determine which ones are susceptible to specific genetic problems or diseases. Only the embryo or embryos without the genetic condition will then be implanted into the mother's uterus.

Genetic testing can be a fairly expensive procedure, although some forms are not overly expensive. In general, most tests range in price from $100 to $2,000 US Dollars. Some procedures are very easy to perform, where the patient merely gives a sample of hair, blood, skin, or other body tissues. Newborn screening is done by taking a small blood sample from the baby. Generally, the testing is not a particularly invasive or painful procedure.


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