Genetic testing results
Accessing and understanding genetic testing results from GeneDx
When your patient’s results are ready, you will receive a notification in your GeneDx ordering portal.
Types of results
Genetic test results will fall into one of three categories, each offering different types of information about your patient’s health. Understanding what each category means can help you decide on next steps.
Positive or
diagnostic
Means a gene change has been identified that is known to cause symptoms or a specific genetic disorder.
Negative
Means there were no gene changes identified at the time of testing that explain a health condition, based on current knowledge. In this case, follow-up testing may be ordered.
Variant of uncertain significance (VUS)
Means a gene change was identified, but based on the available scientific evidence, it is not clear whether this is related to a health condition. In this case, additional evaluations or a future reanalysis of genetic information may be suggested.
Secondary and incidental findings
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,¹˒² ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, 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 (ACMG³). These types of results are optional to receive.
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.
Genetic counseling support
Have questions about your patients’ results? Our genetic experts can assist with results implementation and potential next steps.
Contact us
Client services
Contact our Client Services team at Support@GeneDx.com or call 888-729-1206.
Medical record requests
Contact our Customer Service team at 888-729-1206 or email Support@GeneDx.com to initiate a medical records request.