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.
- Check for genetic changes that may affect your treatment for diseases such as HIV or some cancers.
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| Author: | Maria G. Essig, MS, ELS | Last Updated: April 20, 2009 |
| Medical Review: | Joy Melnikow, MD, MPH - Family Medicine Siobhan M. Dolan, MD, MPH - Reproductive Genetics | |
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| Topic Contents | |
| Test Overview | |
 | Why It Is Done |
| How To Prepare | |
| How It Is Done | |
| How It Feels | |
| Risks | |
| Results | |
| What Affects the Test | |
| What To Think About | |
| References | |
| Credits | |