Genetic Testing Basics
Who to See | Genetic Counselors | Find Counselors |
Types of Testing | The Process | Cost & Coverage
Who to See
Genetic tests should be selected, ordered and interpreted by qualified healthcare providers who have expertise in genetics to ensure appropriate tests are selected and test results are accurately interpreted. Involving a genetic counselor can be crucial in providing information and support for individuals and families throughout the genetic testing process. Both pre-test and post-test counseling should be made available to all individuals and families to help them navigate what can be a complex process, as well as the results. However, some providers are not comfortable providing pre- and post-test genetic counseling, and do not have access to genetic counselors at their practice or institution. Therefore, we recommend that providers who have limited genetic knowledge seek support from genetic counselors and geneticists who have experience with this testing to ensure that individuals receive accurate information.
Smith L, Malinowski J, Ceulemans S, 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. Apr 2023;32(2):266-280. doi:10.1002/jgc4.1646
Genetic Counselors
A genetic counselor is a clinician who has completed a graduate degree in genetic counseling. Training involves coursework in medical and human genetics, counseling skills, and interpretation of research, as well as supervised internship experience in a variety of clinical settings. Most genetic counselors in the United States become board-certified through an exam administered by the American Board of Genetic Counseling (ABGC). Also, many states require licensure to practice.
National Society of Genetic Counselors. “States Issuing Licenses for Genetic Counselors.” NSGC, Apr. 2025, www.nsgc.org/POLICY/State-Licensure/States-Issuing-Licenses.
Genetic counselors play a critical role in the genetic testing process by providing education, counseling, and support to families throughout their diagnostic and genetic testing journey. They can offer expert guidance throughout the entire genetic testing process, and work to help patients navigate testing options, understand their test results, and help make informed decisions regarding next steps. With the complexities of genetic testing, genetic counselors can support and empower their patients to have a voice in their healthcare choices, as well as provide emotional support during this time. It has been shown that individuals who receive genetic counseling have an increased knowledge in their care, experience decreased anxiety, feel in control of their personal health and have a better perception of risks associated with results.
Lal, D. Podcast Episode 03: Clinical Genetic Testing Guidelines for Epilepsies. YouTube. https://www.youtube.com/watch?v=N5Q96Eycf40
Everyone’s journey with epilepsy is deeply personal, and genetic counseling can be an important resource.
Find a Genetic Counselor:
Search through filters:
Name | Institution | Location | Language(s) | Patient Age | Important Notes | Contact Info |
|---|---|---|---|---|---|---|
Beth Sheidley | Boston Children's Hospital | Boston, MA | English, Spanish | Children | Counseling exclusively for patients followed at Boston Children’s. | Phone: 617-919-1575
Email: NeuroGC@childrens. harvard.edu |
Erin McGinnis | Ann & Robert H Lurie Children’s Hospital of Chicago | Chicago, IL | English | Children | Counseling exclusively for Ann & Robert H Lurie Children’s Hospital of Chicago; Telemedicine for IL residents. | Phone: 312-227-8248
Email: Emcginnis@luriechildrens.org
|
Allison Wheeler | Children's Hospital Colorado (CHCO) | Denver, CO | English | Children | Prenatal counseling available. CHCO sees patients under 18; adults in CO can contact UCHealth Neurology at 720-848-2080. | Phone: 720-777-6895 |
Emile Moura Coelho da Silva | UTHealth Houston | Houston, TX | English, Portuguese | All Ages | Counseling exclusively for epilepsy and/or neurodevelopmental disorders with genetic changes in SCN1A, SCN2A, SCN3A, SCN8A, CACNA1A, DEPDC5, NPRL2, NPRL3, GRIN1, GRIN2A, GRIN2B, GRIN2D, SLC6A1, and chromosome 8p-related disorders. | n/a |
Tamara Reynolds | Nationwide Children's Hospital | Columbus, OH | English | Children | Counseling exclusively for patients seen by neurologists at Nationwide Children's Hospital | n/a |
Amanda Rosenberg | Cincinnati Children's Hospital Medical Center | Cincinnati, OH | English | All Ages | Please contact our epilepsy GC team at epilepsyGC@cchmc.org | Email: epilepsyGC@cchmc.org |
Gillian Prinzing | Boston Children's Hospital | Boston, MA | English | All Ages | Neurogenetics visits open to all; genetic counseling for internal referrals only. | n/a |
If you are an Epilepsy genetic counselor who would like to be included in the list, please contact REN at info@rareepilepsynetwork.org
Types of Testing
There are many different genetic tests currently available and testing technologies are rapidly changing. The specific test that your healthcare provider recommends may vary depending on your medical and family history. Although whole genome sequencing, exome sequencing and multi-gene panel tests are the recommended first line tests for people with epilepsy, there may be additional tests required in some situations. Exome and genome testing offer broad analysis and reduce the likelihood of uncertain results, especially when performed with samples from both biological parents.
Smith L, Malinowski J, Ceulemans S, 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. Apr 2023;32(2):266-280. doi:10.1002/jgc4.1646
Smith L, Malinowski J, Ceulemans S, 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. Apr 2023;32(2):266-280. doi:10.1002/jgc4.1646
Lal, D. Podcast Episode 03: Clinical Genetic Testing Guidelines for Epilepsies. Youtube. https://www.youtube.com/watch?v=N5Q96Eycf40
Although exome and genome are typically the most expensive options, they may be more cost effective in the long term and help individuals avoid the need for undergoing multiple genetic tests over an extended period of time.
Lal, D. Podcast Episode 03: Clinical Genetic Testing Guidelines for Epilepsies. Youtube. https://www.youtube.com/watch?v=N5Q96Eycf40
Most Common First Line Testing:
2. Exome Sequencing: This test focuses on sequencing the protein coding regions of an individual’s genes, called exons, which are where approximately 85% of disease-causing variants are found.
1. Genome sequencing: This is the most comprehensive genetic test currently commercially available that looks at an individual’s entire genomic sequence.
3. Multigene panel: Panel test targets a subset of genes. Typically, panels include 25 or more epilepsy-related genes. It is important to note that not all laboratories include the same epilepsy genes on their panels.
“Only 43% of [known] epilepsy-related genes are tested on many commercial epilepsy panels”
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.
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.
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Amanda Singleton. GeneDx Genetic Diagnostics Powerpoint.
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4. Single Gene or Targeted Gene Panel: Panel test targets a small subset of specific epilepsy-related genes.
Although genome and exome are comprehensive tests, they don’t lead to a diagnosis in every case. There are some genetic variants that cannot be detected with exome or genome, and a provider may therefore supplement or replace those tests with other tests such as chromosomal microarrays (CMA), mitochondrial genome analysis, somatic tissue testing for mosaic variants, and karyotypes.
With these recommendations, it is important to note that the determination of the testing approach should be left to the judgement of the ordering provider given an individual’s specific case.
Smith L, Malinowski J, Ceulemans S, 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. Apr 2023;32(2):266-280. doi:10.1002/jgc4.1646
The Process
A genetic counselor or other healthcare provider will discuss benefits, risks, and limitations of testing to help an individual make an informed choice about whether to undergo genetic testing.
A genetic counselor or other healthcare provider will recommend the most appropriate testing based on relevant medical and family history information will select the laboratory, and place the order for testing.
The sample is sent to a genetic testing laboratory for analysis.
A sample is collected for analysis. Acceptable samples include blood, buccal (cheek cells), or saliva. A sample may be collected in the clinic or at an off-site laboratory. Most labs also provide an option for self-collection of a buccal or saliva. Labs will provide a kit that can be used at home.
When the lab finalizes their analysis and the individual’s test report, they will share this with the healthcare provider who ordered the test.
The individual’s genetic counselor or provider will share these results with the individual and help them determine next steps.
Cost & Coverage
The cost of genetic testing depends on the type of test ordered, your insurance coverage, and the laboratory performing the test. Fortunately, many individuals pay little or nothing out of pocket through insurance coverage, laboratory financial assistance programs, sponsored genetic testing programs, or research studies.
Insurance Coverage
Many commercial insurance plans, Medicare, and Medicaid cover medically appropriate genetic testing when ordered by a qualified healthcare provider. Coverage depends on factors such as your medical history, symptoms, the type of test ordered, medical necessity, and your specific insurance plan. Some insurers also require prior authorization or pre-test genetic counseling.
Many genetic testing laboratories are in-network with commercial insurance plans and can help investigate your insurance benefits and obtain prior authorization. In many cases, laboratories will notify you of your estimated out-of-pocket cost before testing if it exceeds a certain amount, allowing you to make an informed decision before proceeding.
Emerging evidence suggests that earlier genetic testing may improve outcomes while reducing healthcare costs. For example, data presented at the 2026 American College of Medical Genetics and Genomics (ACMG) Annual Meeting from the GeneDx SAVES-Kids study suggest that earlier exome or genome sequencing for children with epilepsy may reduce hospitalizations, emergency department visits, and overall healthcare costs.
If Insurance Doesn't Cover Testing, several options may significantly reduce or even eliminate out-of-pocket costs:
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Laboratory financial assistance programs that offer reduced-cost or no-cost testing for eligible individuals.
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Sponsored genetic testing programs funded by laboratories, nonprofit organizations, or industry partners for specific disorders or clinical indications.
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Research studies that include genetic testing at no cost, with some returning clinically meaningful results.
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Discounted self-pay pricing offered by many laboratories.
If cost is a concern, ask about available financial assistance and self-pay options before testing is ordered.
Need Help?
If you're unsure how to access, navigate, or pay for genetic testing, consider speaking with:
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Your healthcare provider
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A genetic counselor
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The testing laboratory
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Your insurance company
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A patient advocacy organization
These organizations can help you understand your insurance coverage, determine whether prior authorization is required, identify financial assistance or sponsored testing opportunities, and connect you with additional resources.
The Child Neurology Foundation's Connected Care Network offers free, one-on-one support to help families navigate insurance, locate resources, and connect with disease-specific organizations.
The Epilepsy Foundation also provides information on understanding health insurance, coverage, and appeals.
Tip: If one payment option isn't available, ask about another. Many individuals who don't qualify for insurance coverage can still access genetic testing through laboratory financial assistance programs, sponsored genetic testing programs, research studies, or discounted self-pay pricing.