A doctor may use a genetic test to help diagnose this disease.What is a genetic test?
A genetic test looks for changes in a person’s DNA that are known to cause a disease or medical problem. There are different types of genetic tests and different reasons that a genetic test may be ordered. In many cases, genetic tests are used to confirm or rule out a diagnosis.What do I need to know about getting a genetic test?
The steps to get a genetic test may vary slightly, but may include:Talking to a Doctor
Genetic tests may be ordered by a primary care physician (PCP), a geneticist, or other specialist. Talking to a PCP about testing options, and possibly seeing a specialist is an important first step.Understanding Informed Consent
Informed consent for a genetic test involves learning the details, risks, and limitations of the test. Important information about the test includes the genes that are being tested, the type of sample needed, the accuracy of the test, and how the results will be reported.
Even genetic tests have risks. For example, the test result may be unclear, and your doctor may suggest further tests, or find something unexpected. Questions about a genetic test should be answered before signing an informed consent form.Getting the Test
Genetic tests use a sample of blood, saliva, or other tissue. The sample may be taken at a doctor’s office or a local lab. The sample is often mailed to a specialized genetic lab to be tested. It can take days to many weeks for the results to be returned. Results may be given during a follow-up visit with a medical provider or by phone.How do I understand my test results?
Genetic tests usually report genetic changes as pathogenic, benign, or unknown variants.
- Pathogenic variant means the genetic change is known to cause a disease or health problem.
- Benign variant means the genetic change does not cause a disease or health problem.
- Variant of Uncertain Significance (also called VUS) means it is currently not known whether the genetic variant causes a disease or health problem.
The doctor who ordered the test or a genetic counselor will explain if the test found the cause of the disease. They will also explain the details of the result and discuss next steps. Depending on the type of genetic test and the reason for doing the test, further genetic testing may be done.