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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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