New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more
With flexibility in how you receive results, we make it easy to fit GeneDx testing into your workflows. When your patient’s results are ready, you will receive a Provider Portal notification to view and download them from the Portal. Based on your reporting preferences, you can also receive an email alert or have the results faxed to you.
Genetic testing can deliver the following 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.
Genetic testing may also deliver the following types of results that are unrelated to the reason testing was ordered:
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.”
Have questions about your patients’ results? Our genetic experts can assist with results implementation and potential next steps.
Questions? Contact our Client Services team at Support@GeneDx.com or call 888-729-1206.
Looking to request medical records? Please contact our Customer Service team at 888-729-1206 or email Support@GeneDx.com to initiate a medical records request.
Some genetic changes, also known as variants, may be hard to interpret, which is what makes them ‘uncertain.’ A variant is called uncertain if there’s limited or inconclusive data about it. In many cases, this is because it hasn’t been seen often enough in people with similar symptoms to draw clear conclusions.
Not necessarily. It just means that right now, there isn’t enough evidence to clearly link a genetic variant to the condition. As science advances, so does our understanding of genetic conditions—and our ability to find answers for more patients.
Yes—as our understanding of genetic disease evolves, so does the way we understand genetic variants. We may reclassify a variant based on new evidence about the genetic variant or patient-specific clinical information. This can include:
Yes—a ‘VUS’ can become more certain over time. Our team continuously checks for new gene discoveries and reclassifications. Families and providers can help move things forward by:
Every report includes next steps tailored to your patient. For ‘Negative’ or ‘VUS’ results, we often recommend one or more of the following:
