Why genetic testing matters
When standard tests and treatments don’t provide answers, genetic testing may help uncover them. Exome and genome testing offer the most comprehensive view of your genes.
Access testing
How the genetic testing process works
Your doctor orders a test
Your doctor reviews your health history, discusses testing options, and orders the right test for you.
Your sample is collected
A blood sample, cheek swab, or other specimen is collected and sent to GeneDx for analysis.
Results are shared and discussed
Your doctor reviews the results with you and helps decide next steps, with guidance from genetic experts.
What to expect during the process
Types of genetic test results
Your genetic test results will fall into one of four categories, each offering different types of information about your health. Understanding what each category means can help you and your provider decide on next steps.
Positive or diagnostic
Means a gene change has been identified that is known to cause your/your child's 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, a provider may order follow-up testing.
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, a provider might suggest additional evaluations or a future reanalysis of genetic information.
Unexpected
Rarely, genetic testing may reveal that an individual is at risk for health concerns that are not related to the reason for testing but may have implications for medical management. This includes the American College of Medical Genetics and Genomics (ACMG) secondary findings, which will be included in your exome and genome testing report unless you opt out of receiving these on your consent form. Learn more in our patient guide.
Patient counseling support
A genetic counselor is a healthcare professional who can help you better understand the genetic testing process and what your testing reveals once your results are available. They can also offer resources and support.
GeneDx offers comprehensive pre-test education and post-test genetic counseling. Post-test genetic counseling requires a referral from your healthcare provider.
- An educational overview video on exome and genome testing.
- The option to speak to a licensed genetic counselor to answer questions about testing.
- Comprehensive post-test genetic counseling discussion to better understand your results and potential next steps*.
- Support and guidance, including connecting you with support groups for ongoing assistance.
If you have a question, please contact us at [email protected] or 888-729-1206
Helpful resources
Financial Assistance Program
Our Financial Assistance Program helps reduce the potential out-of-pocket costs associated with testing for qualifying families.
Epilepsy Partnership Program
Our Epilepsy Partnership Program provides access to testing if your child has epilepsy and meets the eligibility criteria.
Billing & insurance
We know medical billing can feel complicated. That’s why GeneDx takes extra steps to simplify it for you.
Patient support
Trusted, expert support at every step. We’re here to help.