What is Genetics? : Frequent Questions & Answers

Is genetic testing only used on TV for catching criminals?

Genetic testing is a test that looks at our DNA. It has many uses outside of how it is used in movies and on TV! Doctors use genetic testing to diagnose disease, predict if a person is at risk for disease, or find out if a person is a carrier of a genetic condition. The type of doctor that typically orders genetic testing is a geneticist, but other doctors such as OB/GYNs, family practice doctors, or other specialists may order DNA testing. It is very helpful to find out if a disease has a genetic basis through genetic testing so that a correct diagnosis can be made or people in the family are aware of their risk for disease. Mutations that cause a genetic disease can run in a family, so genetic testing of one family member can allow others in the family to be tested for that same mutation. This knowledge may allow others in a family to prevent or better treat the disease.

There are many types of genetic tests that a geneticist may order. One common genetic test is called a karyotype. A karyotype is a blood test that looks at the structure of a person’s chromosomes, which are the packages of our DNA found in every cell of the body. A change in the amount or number of chromosomes can cause problems with growth and development. For example, Down syndrome is caused by an extra chromosome #21. A karyotype is often ordered if a child or adult is having problems with development, infertility, mental retardation or has specific physical features. Also, a karyotype can be done during pregnancy through a procedure called amniocentesis to diagnose chromosome abnormalities such as Down syndrome. A microarray is another type of genetic test that looks at the chromosomes, but is much more detailed. Other genetic tests can look closer at the DNA, into the genes, to see if a person has a mutation in a specific gene that is causing a disease. To learn more about genetic testing visit: What is Genetic Testing?