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What are the uses of genetic testing that may be important for me to know?
Diagnostic testing is used to identify or confirm the diagnosis of a disease or condition in a person or a family. Diagnostic testing gives a "yes" or "no" answer in most cases. It is sometimes helpful in determining the course of a disease and the choice of treatment. Examples of diagnostic testing include chromosome studies, direct DNA studies, biochemical genetic testing, and protein truncation testing.
Predictive genetic testing
Predictive genetic testing determines the chances that a healthy individual with or without a family history of a certain disease might develop that disease. There is predictive testing available for some adult-onset conditions (those diseases with symptoms that develop in adulthood) such as some types of cancer, cardiovascular disease, and some single gene disorders.
Presymptomatic genetic testing
Presymptomatic genetic testing is used to determine whether a person who has a family history of a disease, but no current symptoms, has the gene alteration associated with risk of disease.
Carrier testing is performed to determine whether a person carries one copy of an altered gene for a particular disease.
Prenatal diagnosis is used to diagnose a genetic disease or condition in the developing fetus.
Preimplantation studies are used following in vitro fertilization to diagnose a genetic disease or condition in an embryo before it is implanted into the mother's uterus.
Newborn screening is performed in newborns in state public health programs to detect certain genetic diseases for which early diagnosis and treatment are available.