Genetic testing can deliver three types of results:
- Positive or diagnostic means we found a gene change that’s known to cause symptoms or a specific genetic disorder.
- Negative or non-diagnostic means there were no gene changes identified at the time that explain a health condition, based on current knowledge. In this case, your provider may order follow-up testing.
- Uncertain means we found a gene change but, based on the available scientific evidence, we cannot clearly say whether this is related to a health condition. In this case, your provider might suggest additional evaluations or a future reanalysis of your genetic information.
Genetic changes may also be identified that are unrelated to the reason your provider recommended testing, known as “secondary findings.” This information is optional to receive and occurs in ~3% of people. We encourage you to discuss this option with your provider.