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 |
|---|---|---|---|---|---|---|
Niki Armstrong | Foundation for Angelman Syndrome Therapeutics | Tampa, FL | English | All Ages | Counseling is exclusively for patients with a suspicion of or a diagnosis of Angelman syndrome or a UBE3A variant. Licensed in all US states. Schedule meeting here: https://calendly.com/cure-angelman/30min | Phone: (646) 981-6930
Email: Genetic.counselor@ cureangelman.org |
Emily Hughes | Le Bonheur Children's Hospital | Memphis, TN | English | Children | Counseling is exclusively for patients treated at Le Bonheur Children's Hospital | n/a |
Abby Turnwald | Cincinnati Children's Hospital | Cincinnati, OH | English | All Ages | Counseling is exclusively for patients within a specific radius of Cincinnati | Phone: 513-636-9861
Email: epilepsyGC@cchmc.org |
Erin McGinnis | Ann & Robert H. Lurie Children's Hospital of Chicago | Chicago, IL | English | Children | Counseling exclusively for patients of Ann & Robert H. Lurie Children's Hospital of Chicago. Able to set up an appointment set up for them. | Phone: 312-227-3540
Email: emcginnis@lurie childrens.org |
Maureen Mulhern | Columbia University Irving Medical Center | New York, NY | English | All Ages | Counseling exclusively for patients seen by neurologists from Columbia University Irving Medical Center | n/a |
Lacey Smith | Boston Children's Hospital | Boston, MA | English | Children | Not seeing patients now; future counseling exclusively for patients at Boston Children's Hospital. | n/a |
Sophia Ceulemans | Rady Children's Hospital | San Diego, CA | English | Children | Can see external referrals via Genetics; Neurology patients must see Rady Children’s neurologist first. Counseling is the same across departments. | n/a |
Nicole SY Liang | The Hospital for Sick Children | Toronto, ON | English, Chinese | Children | Counseling exclusively for patients of The Hospital for Sick Children | n/a |
Emily Bonkowski | St. Jude Children's Research Hospital & LeBonheur Children's Hospital | Memphis, TN | English | Children | Clinical care exclusively for patients of LeBonheur Children's Hospital via Neurogenetics Clinic | Phone: 267-425-0515
Email: engin@chop.edu |
Katie Rose Sullivan | Children's Hospital of Philadelphia | Philadelphia, PA | English | Children | Clinical counseling via ENGIN only; virtual/phone research visits may be possible. | Phone: 267-425-0515
Email: engin@chop.edu |
Chelsea Chambers | University of Virginia | Charlottesville, VA | English | All Ages | None | Phone: 434-806-1110
Email: cc4cf@uvahealth.org |
Rebecca Macintosh | Sydney Children's Hospital | Sydney, NSW | English | All Ages | Counseling exclusively for SCHN patients. | Phone: +6 129-382-5609
Email: rebecca.macintosh@ health.nsw.gov.au |
Olivia Wilmarth | Inova Health System | Falls Church, VA | English | All Ages | None | Phone: 703-776-2822
Email: olivia.wilmarth@inova.org |
Jamie Lundy | Geisinger | Danville, PA | English | Children | None | Phone: 570-214-9196
Email: medicalgenetics@ geisinger.edu |
Kathleen Collins Ruff | Cincinnati Children's Hospital Medical Center | Cincinnati, OH | English | All Ages | Telehealth available for OH/KY residents; limited in-person options for others. | Phone: 513-803-2154
Email: kathleen.collins2@cchmc.org |
Katie Angione | Children's Hospital Colorado / University of Colorado | Denver, CO | English | All Ages | Referrals and general info available. No counseling for out-of-state patients. OR Counseling only for in state patients. | Phone: 720-777-4041
Email: kaitlin.angione@ childrenscolorado.org |
Melissa Gibbons | Children's Hospital Colorado | Aurora, CO | English | Children | Telehealth limited to CO residents; can help with family member testing in CO. | Phone: 720-777-6895
Email: Melissa.gibbons@childrens colorado.org |
Sonal Mahida | Boston Children's Hospital | Boston, MA | English, Gujarati | Children | None | Phone: 617-919-1683
Email: NeuroGC@childrens. harvard.edu |
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. Provided by Ilene.
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4. Single Gene or Targeted Gene Panel: Panel test targets a small subset of specific epilepsy-related genes.
Helbig I, Tayoun AA. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Mol Syndromol. 2016 Sep;7(4):172-181. doi: 10.1159/000448530. Epub 2016 Aug 20.
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
Many labs that provide genetic testing are in network with commercial insurance payors. Most insurance companies have policies for exome testing, but may have specific requirements. For example, they may require seizure onset before 3 years of age or may require pre-test counseling with a board-certified genetic counselor.
If insurance doesn’t cover the cost of genetic testing, genetic testing labs may offer free or low-cost testing programs and financial assistance programs.
See Section: Where to Test Page.