Many people with a neurodevelopmental disorder (NDD) are the first person in their family to have it. Often, genetic testing can find a gene mutation for someone with an NDD that is not found in their parents or other family members. This is called a de novo, or new, gene mutation in a family.
In other families, gene changes that cause NDDs can be inherited from earlier generations. Your healthcare provider can talk with you more about the inheritance pattern of NDDs in your family.
Genetic testing can make a big difference in the journey with an NDD. It may end the search for a diagnosis and may lead to finding the best treatment. However, genetic testing has its limitations. For instance, not everyone has an NDD with a genetic cause that can be uncovered with current testing. Some NDDs may be due to other non-genetic factors, such as differences in how the brain was formed during early development. Learning genetic test results can also cause worry and anxiety for some people.
Please share any questions or concerns you have with your healthcare provider. Click here to learn more about the pros and cons of the testing process.