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Genetic testing
What are the uses of genetic testing that may be important for you to know?
- Diagnostic testing
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
Carrier testing is performed to determine whether a person carries one copy of an altered gene for a particular disease.
- Prenatal diagnosis
Prenatal diagnosis is used to diagnose a genetic disease or condition in the developing fetus.
- Preimplantation studies
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
Newborn screening is performed in newborns in state public health programs to detect certain genetic diseases for which early diagnosis and treatment are available.
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