We’ve teamed up with Genome Medical, a medical practice specializing in telehealth genetic services, to help you get quicker access to genetic counselors and testing. Uncover the answers your child needs and take the next step toward more personalized care for their epilepsy.
Half of unexplained epilepsy cases likely have a genetic cause.1
Up to 80% of patients with epilepsy got better treatment options after receiving a genetic diagnosis.1
In some cases, patients had up to 90% fewer seizures after receiving a genetic diagnosis.1
For reasons like these, the National Society of Genetic Counselors (NSGC) recommends exome testing as a first-line option for patients with unexplained epilepsy. The American Epilepsy Society (AES) supports this recommendation.2
Through our collaboration with Genome Medical, you can virtually meet with a board-certified genetic counselor and start the testing process from the comfort of your home. The process is easy.
Meet with a genetic counselor online*
Schedule a virtual visit with a licensed, board-certified genetic counselor through Genome Medical. Most appointments are available within a week.
Share your child’s health story
During your session, you’ll walk through your child’s symptoms and medical history. Your genetic counselor will explain how testing might help uncover answers, and you can ask any questions along the way.
Review testing options
If exome or genome testing makes sense for your child and you decide to move forward, Genome Medical will place the order for you.
Swab and send
We’ll mail you a sample collection kit with everything you need. Just swab the inside of your child’s cheek and send the sample back to us using the pre-paid envelope. All analysis, interpretation, and reporting is done through our GeneDx lab.
Get results and guidance on next steps
In just a few weeks, Genome Medical will reach out with your results. You can choose to meet with a genetic counselor again to talk through your results and receive guidance on next steps. We recommend sharing your results with your child’s care team, too.
Cost should never stand in the way of answers. That’s why we’ve partnered with leading biopharma companies to create the Epilepsy Partnership Program, designed to help more pediatric patients with epilepsy symptoms get the testing they need.
If your child’s doctor recommends exome testing, this program may cover the cost—even if your insurance doesn’t, or a claim gets denied.
Talk to Genome Medical to see if your child is eligible.
“I would never wish those seven years I spent searching for a diagnosis on anyone. The sense of relief I finally got from finally getting a diagnosis was overwhelming. We found hope and a path forward.”
–Ashley, Ben’s mother
“My advice to parents would be to try to get that information and push for exome sequencing as early as possible because the more information you have earlier, the more you’re potentially able to do and help your child’s long-term outcome.”
–Andrea, Carlotta’s mother
“There was an ounce of relief in [getting the diagnosis], because we had been waiting for answers and now we had them. We now had some sort of direction, too.”
–Emily, Savannah’s mother
“Getting a diagnosis was like having a direct prayer answered. Although we understood there was an uncharted road before us, we finally had a name, a diagnosis, and a way to conceptualize our experience with our son.”
–May, Bodhi’s mother
Exome and genome testing offers a deeper look into your child’s DNA, helping uncover possible genetic reasons for why their body may be growing or developing differently than expected. These tests show the most complete view of your child’s genes and can provide important answers that inform their treatment and/or care plan.
Exome testing focuses on the part of DNA that tells the body how to make proteins–where most known genetic conditions are found.
Genome testing looks at person’s DNA as a whole, offering the broadest view.
Not sure which test is right for your child? Genome Medical can help guide you based on your child’s symptoms and medical history.
You can also watch this short video to learn more about exome and genome testing.
Genome Medical is the leading provider of telehealth genetic services, delivering expert guidance, accelerating diagnoses and improving outcomes for individuals and families with rare conditions. Genome Medical’s clinical team includes experienced genetic counselors, medical geneticists, pharmacists, and other specialists who provide care across all 50 states.
The program includes two separate components, with two separate billing policies. Genetic counseling and test ordering is performed by Genome Medical, while the laboratory testing and analysis is performed by GeneDx.
Alternatively, Genome Medical offers self-pay pricing: $250 for the initial pre-test counseling, order placement, and results summary, and an additional $250 for post-test counseling (if desired).
Additionally, patients with epilepsy may qualify for GeneDx’s Epilepsy Partnership Program. Through this program, if a family’s health insurance company denies their claim or if they are uninsured, our pharma partners will cover the cost of GeneDx testing. Visit GeneDx.com/partnership-program for more.
In addition, Genome Medical and GeneDx each offer financial assistance options:
Yes, at this time, this program is limited to individuals residing in the United States.
A genetic counselor is a healthcare professional trained in genetics who’s there to guide and support you. They can help you decide if testing makes sense, break down test results so they’re easy to understand, and talk you through next steps for your child’s care. Just like a doctor or geneticist, they can also order genetic tests.
Genome Medical’s genetic counselors are highly trained genetic experts, and they’re here to help determine whether exome or genome testing is the right next step for your child.
To make the most of your appointment, be ready to talk through your child’s medical history, including:
Symptoms and conditions that might benefit from genetic testing include:
Sharing this information helps your genetic counselor understand the full picture so they can guide you toward the best next step in your child’s care.
Yes. Exome testing can often find answers that other tests miss.
Multi-gene panels and chromosomal microarrays don’t capture the full picture. In fact:
If your child still doesn’t have answers, exome testing may be the next best step.
Absolutely. We encourage you to share your child’s results with their care team. Once your results are available, you’ll receive a summary that you can download or print to share with your child’s doctor to help guide their ongoing care.
Genetic testing can deliver three types of results:
The exact information found in an exome report will vary, although results will typically contain details like:
*If available in your state
References: 1. Sheidley BR, et al. Genetic testing for the epilepsies: A systematic review. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. 2. Smith L, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023 Apr;32(2):266-280. doi: 10.1002/jgc4.1646. 3. Butler L, et al. Exome-based testing for patients with seizures: Advantages over panel-based testing. Poster presented at American Epilepsy Society Annual Meeting; December 2, 2023; Orlando, FL. 4. Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front Pediatr. 2021 Feb 19;9:526779. doi: 10.3389/fped.2021.52679. eCollection 2021.
