Accessing and understanding GeneDx results

Positive or diagnostic means we found a genetic change that’s known to cause symptoms or a specific genetic condition.

Negative or non-diagnostic means that no genetic changes were identified that explain your patient’s health condition, based on current knowledge. In this case, additional genetic testing or future reanalysis may be warranted.

Variant of uncertain significance (VUS) means we identified a genetic change but, based on the available scientific evidence and/or the provided clinical documentation or lack thereof, we cannot clearly determine whether the finding is related to your patient’s health condition at this time.

Secondary findings: For 2-3% of patients, testing also identifies genetic variants unrelated to the reason testing was ordered, but for which medical screening and/or treatments are available, as defined by The American College of Medical Genetics and Genomics (ACMG). These types of results are optional to receive. Learn more in our Secondary Findings guide.

Incidental findings: We may also share additional results if we find genetic changes not directly related to the reason testing was ordered, but that could impact medical care. These are separate from the genes that ACMG defines as “secondary findings.”