Can genetic testing affect my child's diagnosis?

Many genetic conditions are well-documented; scientists have pinpointed the exact gene mutations that cause the condition. But many children do not present with symptoms that are clearly identified with a known genetic condition — or they present with symptoms that could be caused by any number of genetic conditions. This category includes children who may already have a behavioral, developmental, or neurological diagnosis — such as autism, ADHD, intellectual disability, or dyslexia — as well as children who do not yet have a diagnosis.

For children without a diagnosis, testing may reveal a genetic condition, rule out some genetic conditions, or provide other information that can help guide providers in managing their treatment. For children with a diagnosis, parents and providers may turn to genetic testing for additional data to help them understand the child’s symptoms and treatment options. Although autism, ADHD, intellectual disability, and many other behavioral and learning conditions cannot be diagnosed through genetic testing, such testing may reveal an underlying genetic condition of which the behavioral diagnosis is a symptom or a co-occurring condition. This information may in turn be valuable in planning and managing the child’s care.

For more information, see Genetics 101.