Genetic Test

Why It Is Done

A genetic test is done to:

• Determine if people who have a family history of a specific disease are likely to pass that disease on to their children (carrier identification). Information obtained from this type of testing can help guide a couple as they make decisions regarding pregnancy.
• Determine if a fetus has a disorder, such as Down syndrome (prenatal testing). Information obtained from this type of testing can help guide a couple as they make decisions regarding pregnancy.
• Check for various metabolic diseases, such as phenylketonuria (PKU) (newborn screening). Information obtained from newborn screening can help guide medical treatment to ensure the best possible outcome for the baby.
• Determine if you carry a genetic change that increases your risk for developing a disease, such as breast cancer or Huntington's disease, later in life (late-onset disease testing). This might be important to you if you have a parent or other relative diagnosed with the disease. Information obtained from this type of testing can help you make decisions about disease prevention or future childbearing.

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Author:	Maria G. Essig, MS, ELS	Last Updated: April 26, 2007
Medical Review:	Joy Melnikow, MD, MPH - Family Medicine Renee H. Martin, PhD - Medical Genetics
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