If you are seeking a diagnosis, genetic tests along with a physical exam, medical history, and other lab tests can sometimes provide a clear answer that explains your symptoms and helps your doctors make decisions about treatment. But it’s also possible that your test results won’t produce a diagnosis–at least not right away.
There are many types of genetic tests and they are constantly improving, together with our knowledge of the variants that can lead to genetic disease. It sometimes takes multiple rounds of testing over a period of years to get the answer you are seeking. But if you are persistent, the diagnosis you ultimately receive can lead to better care and connect you to a supportive community.
Genetic testing identifies changes in genes, called variants. But only a small percentage of variants cause genetic disorders. Most variants have no impact on health or development.
To help determine if a variant is associated with a genetic disorder, scientists group them as follows:
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