Where to Test
Accessing genetic testing and a healthcare provider with the expertise needed to interpret the results can be challenging. Your insurance coverage, where you live, and your healthcare provider’s network and familiarity with available resources may all play a role. With only a few thousand genetic counselors worldwide—and only a few specializing in epilepsy—you may need to explore multiple pathways, including hospital-based clinics, commercial services, or research programs, to access both genetic testing and counseling about the results.
It can be a confusing landscape as some healthcare providers may be able to place orders for genetic testing but not have the expertise to provide counseling about the results, while others may only offer counseling services about results once testing has been completed.
We offer resources below to help you access genetic testing and healthcare providers who have experience with interpreting genetic test results. We strive to provide accurate and up-to-date information. If you notice an error or know of additional resources, please email info@rareepilepsynetwork.com. This list is not exhaustive and does not constitute an endorsement or recommendation of any individual or service.
Clinical Services at Academic & Specialty Centers
Epilepsy Centers, Genetic Divisions or Departments, and other specialty clinics may include access to genetic testing and counseling as part of their work up and care.
Program
Description
Level 4 Epilepsy Centers
Highest-level epilepsy care with access to genetic testing. Search via NAEC Epilepsy Center Directory
Specialty Clinics
Visit Clinics for Rare Epilepsies on REN’s website.
Post-diagnosis counseling option for specific diagnosis (small number of genes) in select states.
REN has curated a list of counselors who specialize in epilepsy testing and counseling. Note some counselors may only be able to see patients at their centers or within their state.
Professional Societies
Professional societies like National Society of Genetic Counselors (NSGC), American College of Medical Genetics & Genomics (ACMG), or Canadian Association of Genetic Counsellors (CAGC) provide directories to help you locate genetic counselors.
Direct Service Providers
Private companies such as Genome Medical, Metis and Informed DNA employ board-certified genetic counselors who offer direct telehealth counseling appointments. Genetic Support Foundation (GSF) is a non-profit that also offers counseling services.
Companies
Offerings
Specializes in rare diseases, including epilepsy. Offers telehealth genetic counseling & test ordering. Provider referral NOT required. - Online scheduling. In-network with many health insurance plans. Provides genetic counseling services, pre-test with test order and/or post-test counseling and a visit summary note after each session for the patient to have for their records and share with their physician and family members.
Telehealth pre and post test counseling completed by their company
Counseling only (non profit) - independent guidance, education and test navigation services
Telehealth Genetic Counseling services ordered by providers.
Commercial Testing Providers
These commercial genetic testing companies and others offer access to a wide range of genetic tests. Some also offer counseling services as well. Some have expertise in rare epilepsies. Availability varies by company and program. Some may be available through your healthcare provider and others are direct to consumers. These include both telehealth and at-home testing kits. Some may offer financial assistance for sponsored testing programs. These may reduce or eliminate out-of-pocket costs if you meet certain criteria, such as having a specific diagnosis, clinical features or lack of insurance coverage.
Provider
Special Programs and Notes
Services Offered
Access Method
GeneDx
Exome & genome sequencing, telehealth
Provider or telehealth referral
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Genome Medical Program: Not everyone can access genetic testing through their current healthcare providers. GeneDx has partnered with Genome Medical to connect families to telehealth providers who can discuss genetic testing and if appropriate order exome or genome tests. Appointments are typically available within one week and details can be found at this link
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Epilepsy Partnership Program: This GeneDx program offers a billing option for individual’s exome testing if their health insurance denies a claim or if they are uninsured. Eligibility and additional details can be found at this link
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Financial Assistance Program: This GeneDx program helps reduce the potential out of pocket costs associated with an individual’s genetic testing. Additional details and how to apply can be found at this link
See Also: Exome & genome: How testing works; Patient FAQs; Exome/genome testing video
At -home saliva kit
Online registration
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Patient initiated testing.
Navigation support for undiagnosed conditions
Direct Application
Labcorp
Testing + optional telehealth counseling
Testing with optional counseling
Research Programs
These may be government or philanthropic funded initiatives for undiagnosed or complex cases. Usually the cost of research testing is covered by grant funding rather than insurance or patient pay, but the length of time to access testing and results can vary. Check the links below for current availability of these programs.
Program
Application Process
Focus Area
Complex, unexplained medical conditions
Provider referral required
Families with unsolved rare genetic disorder
Direct online enrollment
Additional Resources
Additional resources from REN partners follow. If you are aware of new resources for genetic counseling and testing, please contact info@rarepilepsynetwork.org.
Educational Content
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Rare Epilepsy Network
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Watch six presentations created as part of the Project ECHO - The (Not So Rare) Epilepsies: Bridging Genetic
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Child Neurology Foundation including a helpful mini-series for caregivers on “Navigating Insurance for Genetic Testing”.
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CURE Epilepsy - Genetic Research
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Epilepsy Foundation
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24/7 Helpline : You can call 1-800-332-1000 to speak with someone in English, or you can call 1-866-748-8008 to speak to someone in Spanish.
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Genetic Testing for Epilepsy
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Video Resource: How can genome sequencing be used for patient diagnosis?
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Start Genetic - Parent toolkit
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Clinical Practice Resources form Labcorp & Invitae
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National Organization for Rare Disorder (NORD)