Large-scale genomic testing is also used in research to learn more about the genetic causes of conditions. Large-scale genetic tests can have findings unrelated to why the test was ordered in the first place secondary findings. If you have a family history of a genetic condition, have symptoms of a genetic condition, or are interesting in learning about your chance of having a genetic condition, talk to your doctor about whether genetic testing is right for you.
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Genetic Testing. Minus Related Pages. Find a genetic counselor in your area through the National Society of Genetic Counselors external icon Find a medical geneticist genetic doctor in your area through the American College of Medical Genetics and Genomics external icon.
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You will be subject to the destination website's privacy policy when you follow the link. CDC is not responsible for Section compliance accessibility on other federal or private website. Diagnostic testing can be performed before birth or at any time during a person's life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disorder.
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions.
If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition. Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's uncertainty or help them make decisions about a pregnancy.
It cannot identify all possible inherited disorders and birth defects, however. Preimplantation testing, also called preimplantation genetic diagnosis PGD , is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder.
It is used to detect genetic changes in embryos that were created using assisted reproductive techniques ART such as in-vitro fertilization IVF. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus to initiate a pregnancy. Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life.
These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer.
Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis an iron overload disorder , before any signs or symptoms appear. Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people for example, paternity.
For example, tests can find diseases that:. Diagnostic genetic testing is used to find or confirm the diagnosis of a genetic condition. This kind of testing may be done before birth, or any time during a person's life. Test results may help determine the course of a disease and the choice of treatment. Types of tests include chromosome studies, direct DNA studies, and biochemical genetic testing. This kind of testing helps show how much of a chance a person with or without a family history of a disease may develop that disease.
Predictive testing is available for health problems such as some types of cancer, cardiovascular disease, and some single-gene disorders. This kind of testing is used to find out if a person with a family history of a disease who has no symptoms has the gene changes of the disease.
This can help show if the person has the disease before symptoms start. A carrier is someone who has a faulty copy and a normal copy of the same gene. He or she may not have a genetic disease.
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