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.
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:
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.
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.
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.
Below are links to a few patient advocacy organizations focused on rare diseases.
- MyGene2, a portal through which families with rare genetic conditions — and who are interested in sharing their health and genetic information — can connect with other families, healthcare providers and researchers.
- Putting Rare Disease Patients First (PRDPF), for patients with rare diseases
- National Organization for Rare Disorders (NORD), which provides information and support to patients and families affected by 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.
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.
For our policies on Privacy, Non-Discrimination, Patient Access, and Third Party Authorization, please follow this link.
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