A gene panel is a test that looks at many genes at the same time. Gene panel testing looks for pathogenic variants in genes that are known to cause specific genetic conditions or health concerns. For example, if you or your child has seizures, the laboratory will look at genes related to seizures to see if we can find any pathogenic variants that would explain the seizures.

Gene panels can be done for many different conditions, like neurological or muscle problems, breast cancer, and some inherited heart problems. Gene panels are often used for diagnostic testing.

Gene panel testing is most commonly done on a blood sample. It can give 4 kinds of results:

• Positive: The test found a variant causing a genetic condition for you or your child. Knowing this diagnosis can provide helpful information for you and your healthcare team.
• Negative: The test did not find anything. There could still be a genetic condition, but the test was not able to find it.
• Uncertain: The test found a variant, but it is not well understood. The variant may or may not explain your health or learning concerns. Your healthcare team will talk with you about next steps to try to better understand this result.
• Complex: There are several types of complex results. A complex result can mean that the test found more than 1 genetic variant. A complex result may also identify a genetic syndrome. This result could explain your or your child’s health or learning concerns and tell you about other potential health concerns. In these cases, you may need more tests or be referred to a specialist. Complex results are rare.