Genetic Test Network

Genetic test is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, Genetic testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a personís chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed.

Genetic testing is a complex process, and the results depend both on reliable laboratory procedures and accurate interpretation of results. Tests also vary in sensitivity. Everyone carries two copies of every gene, one inherited from their father and one from their mother. The human genome appears to contain approximately 20,000 to 25,000 genes.

Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a medical procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder.

A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for further testing. A negative test result means that the laboratory did not find a dangerous copy of the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease.