Learn more about your testing

What you need to know

If you or one of your family members have symptoms of a genetic disease, your healthcare provider may suggest genetic testing.

Unlock answers hidden in your genes

Genetic testing has the ability to diagnose disease and identify other medical problems that might occur in the future. There are different types of genetic tests and your healthcare provider can help decide which test is appropriate for you.


Know more

  • Tests must be ordered by your healthcare provider
  • We have an extensive testing menu available to diagnose a genetic disease
  • We offer genetic counseling
  • Or find a genetic counselor at www.nsgc.org
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What type of test results can I expect from genetic testing?

There are three types of genetic testing results. Your test report may contain a table with one or more types listed below:

Line drawing of a DNA helix that indicates a positive test result for a DNA variant

Pathogenic or Likely Pathogenic Variant

A change in your DNA was found, which is very likely the cause of your features/symptoms. This is the most straightforward test result, which can be used as the basis to test other family members to determine their chances of having either the disease or a child with the disease.

Line drawing of a DNA helix that indicates a a variant of uncertain significance (VUS) test result

Variant of Uncertain Significance (VUS)

A change in a gene was found. However, we are not sure whether this variant is the cause of your symptoms/features. More information is needed. We may suggest testing other family members to help figure out the meaning of the test result.

Line drawing of a DNA helix that indicates a negative test result


No variants were found to explain your symptoms. This does not mean that you do not have a genetic condition. It is still possible that there is a genetic variant not found by the test that was ordered. Your healthcare provider or genetic counselor may discuss more testing either now or in the future.

What happens once you get your results?

Your healthcare provider will help you understand your test results. They may discuss further options and refer you for genetic counseling.

More questions? Below is a list of FAQs. 

Yes. For more information, click here.

Below are links to a few patient advocacy organizations focused on rare diseases.

Healthcare providers will request kits for you, since your healthcare provider’s order must be included when a specimen is sent to our laboratory for testing.

You may call GeneDx Customer Service at 1-888-729-1206 or email: support@genedx.com Please ensure that you include the order from your healthcare provider.

Our kit includes illustrated collection instructions. You can also find a helpful patient video on our website by clicking here.

Our customer service team will facilitate a home blood-collection order upon request from your ordering healthcare provider.

Please note, you must have your GeneDx venipuncture (blood) specimen collection kit and a GeneDx test requisition form in hand that has been completed and signed by your healthcare provider before scheduling the home blood-collection appointment. You may also speak to your healthcare provider about other options.

Please reach out to your ordering provider with any clinical questions. Our clinical laboratory team is available to support ordering healthcare providers directly.

Your healthcare provider may refer you for genetic counseling. MyGeneTeam can provide pre- and post-test patient counseling by phone or through videoconferencing. Additional information about local genetic counseling services is available at www.nsgc.org.

For our policies on Privacy, Non-Discrimination, Patient Access, and Third Party Authorization, please follow this link.

To address your billing inquiries, please call the GeneDx Billing Team at 1-888-729-1206, option 2, or email us at billing@genedx.com.

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