A genetic test examines the DNA (deoxyribonucleic acid) of a person's cells. Genetic testing can identify changes in genes or can analyze the number, arrangement, and characteristics of the chromosomes. Testing may be performed on samples of blood, semen, urine, saliva, stool, body tissues, bone, or hair.
You inherit half of your genetic information from your mother and the other half from your father. Genes, alone or in combination, determine what features (genetic traits) a person inherits from his or her parents, such as blood type, hair color, eye color, and other characteristics, including risks for certain diseases. Certain changes in genes or chromosomes may cause medical problems.
Why It Is Done
A genetic test is done to:
- Find out 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.
- Find out 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.
- Check to see if you carry a genetic change that increases your risk for 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.
- Help diagnose hypertrophic cardiomyopathy (HCM) or screen for HCM in close relatives of a person who has the disease.
- Check for genetic changes that may affect your treatment for diseases such as HIV or some cancers.
- Check for a genetic change that may affect how a medicine, such as clopidogrel, will work.