Patient FAQs & Support

Many conditions can have similar symptoms so your healthcare provider may have recommended a genetic test to try to identify an underlying cause for your health concerns. Because exome and genome testing look at over 20000 genes at once these tests may help your healthcare provider diagnose a specific disorder or develop a more effective care plan in a shorter amount of time.

Testing a person's DNA and then comparing it to two biologically related family members is called trio testing.

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Trio testing is valuable because it:

• increases the chance of finding the gene change causing the symptoms
• decreases the chance of unclear or uncertain findings

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That's because everyone has changes in their genes. Comparing the DNA of relatives makes it easier to figure out which genetic changes are causing your symptoms (and which are not).

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Samples from biological parents can provide the most information. However other blood-related family members may also be considered if both biological parents are unable to provide a sample.

Genetic testing looks at our genes which are the instructions that tell our bodies how to develop and function. Sometimes changes in our genes (also called genetic variants) cause our bodies to grow or develop differently than expected. Genetic testing may be able to find these gene changes. That knowledge can help determine:

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• how to best manage or treat a condition or prevent complications related to a genetic diagnosis
• what to expect for the future
• which additional resources and support may help

The exome is the portion of our DNA that tells our bodies how to make proteins which are important for a body to function properly. Exome testing looks at those protein-coding pieces of DNA to try to find the genetic change that may be responsible for differences in how your body functions or developed.

A person's genome is their entire set of genetic information called DNA which tells their body how to develop and function. Genome testing is the most comprehensive genetic test available since it looks at all of a person's DNA. This comprehensive view can enable the greatest chance of finding the genetic change that may be responsible for differences in how your body functions or developed.

Genetic testing can deliver three types of results:

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• Positive or diagnostic means we found a gene change that's known to cause symptoms or a specific genetic disorder.
• Negative or non-diagnostic means there were no gene changes identified at the time that explain a health condition based on current knowledge. In this case your provider may order follow-up testing.
• Uncertain means we found a gene change but based on the available scientific evidence we cannot clearly say whether this is related to a health condition. In this case your provider might suggest additional evaluations or a future reanalysis of your genetic information.

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Genetic changes may also be identified that are unrelated to the reason your provider recommended testing known as secondary findings. This information is optional to receive and occurs in ~3% of people. We encourage you to discuss this option with your provider.

Please contact the healthcare provider who ordered your GeneDx testing with questions related to your results. Your provider may refer you for genetic counseling services at GeneDx to help you understand your results and next steps.

The collection kit will contain illustrated instructions with a link to a video tutorial. You can also access these instructions here.

Please contact Client Services at 888-729-1206 or email Support@GeneDx.com.

If your provider cannot collect a blood sample in-office, you still have options.

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Most GeneDx tests can use a cheek swab (buccal) sample. Ask your healthcare provider if this is an option for your test. See below for instructions on how to collect a cheek swab sample correctly to reduce the chances of contamination or the request for a repeat sample.

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If necessary, GeneDx may be able to arrange for a phlebotomist to come to your home and draw your blood. Please note:

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• For patients under the age of 13 contact client services to confirm that a pediatric phlebotomist is available in your area
• This must be ordered by your healthcare provider
• It will incur an additional cost
• Before scheduling the at-home appointment, you must receive a GeneDx venipuncture (blood) specimen collection kit
• You must also have a completed and signed GeneDx test requisition form from your healthcare provider

Only licensed healthcare providers can order testing directly through GeneDx.

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For patients who are unable to connect with a local licensed healthcare provider, GeneDx has partnered with Genome Medical. Learn more about this program here.

For questions about your GeneDx bill please contact our Billing team at billing@genedx.com or 888-729-1206. If you have questions about your insurance coverage and benefits please contact your insurance provider directly.

The final cost for exome and genome testing will be different depending on the payment option selected. If you are using your insurance benefits, you may have a final out-of-pocket expense depending on your remaining deductible and co-insurance, if applicable. To learn more, visit our billing page.

To dispute your bill please complete this form and email it to Billing@GeneDx.com along with any relevant documentation. A Spanish version of this form is also available.

Please visit our billing page to learn more.

Yes. Please visit our billing page and click on Click here to pay your bill to access a secure payment platform.

For patients who received genetic testing and services from Sema4, a copy of your report was sent to your ordering provider when testing was completed. To receive additional copies of your medical records, please download the Medical Record Release Form and return the completed form with the patient’s signature to support@genedx.com. The medical record release can take up to 60 days upon receipt of the completed, signed form. Please note, genetic ancestry information is not available as a standalone report or as part of the medical record release.

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For non-ordering providers, the Medical Record Release Form must be completed with the patient’s signature and returned to support@genedx.com in order for the records to be released.

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For additional questions, please contact our Client Services team at 888-729-1206, option 3, or email support@genedx.com.

For patients who received genetic testing and services from Sema4 a copy of your report was sent to your ordering provider when testing was completed. To receive additional copies of your medical records please download the Medical Record Release Form and return the completed form with the patient's signature to support@genedx.com. The medical record release can take up to 60 days upon receipt of the completed signed form. Please note genetic ancestry information is not available as a standalone report or as part of the medical record release.

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For non-ordering providers the Medical Record Release Form must be completed with the patient's signature and returned to support@genedx.com in order for the records to be released.

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For additional questions please contact our Client Services team at 888-729-1206 option 3 or email support@genedx.com.

A genetic counselor is a healthcare professional trained in medical genetics and counseling, and skilled at communicating the complexities of genetic testing. During a genetic counseling session, a genetic counselor may review your family health history, explain the benefits and limitations of genetic testing, discuss your test results, offer resources and support, and help you understand whether additional family members should also be tested.

The genetic testing process can be an important step toward understanding your health and the health of your family. Here's what to expect:

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1. Consultation: You will meet with a healthcare provider who will discuss your family history and reasons for testing.
2. Sample Collection: A sample - usually blood or saliva - is collected for testing.
3. Laboratory Testing: The sample is sent to a genetic laboratory for analysis.
4. Results: Once the laboratory finishes testing your healthcare provider will discuss the results with you.
5. Follow-Up: Depending on the results additional discussions about health management and next steps may be necessary.

If your health insurance requires genetic counseling, the first step is to check with your insurance provider to understand their specific requirements and network of genetic counselors. You may also contact a genetic counseling service directly to inquire about their services and whether they are in-network with your provider. It's important to have documentation from your health insurance outlining the requirements for genetic counseling. If you need assistance, a genetic counselor can help clarify these requirements and guide you through the process.

You can reach GeneDx by calling us at 1-800-62-GENE (1-800-624-3637) or by sending us an email at info@genedx.com. Our customer service team is available to assist you with any general inquiries you may have.

Advocacy organizations may be able to connect you with other families like yours. Please visit our advocacy page to learn more.