Access Genetic Testing
Don't Give Up!
If one pathway doesn't work, another may.
If your healthcare provider isn't familiar with or have access to genetic testing, the nearest genetics clinic has a long wait, insurance denies coverage, or previous testing didn't identify a diagnosis, don't stop there.
Finding genetic testing can feel overwhelming, but there isn't a single path to getting tested. The best approach depends on your healthcare provider, insurance, location, and individual circumstances.
This guide walks you through the most common ways to access genetic testing, understand costs, connect with specialists, and explore additional options if your first attempt isn't successful.
Step 1: Start with Your Current Healthcare Provider
For many individuals and families, the easiest place to begin is with the healthcare professional who already knows your medical history. Ask whether genetic testing may be appropriate and whether they can order it.
This may include your:
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Primary care provider
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Pediatrician
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Neurologist
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Pediatric neurologist
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Epileptologist
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Developmental pediatrician
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Nurse practitioner
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Physician assistant
Some healthcare providers can order genetic testing directly. Others may recommend evaluation by a genetics or epilepsy specialist before testing.
Tip: Download REN's How to Talk to Your Doctor About Genetic Testing guide to help prepare for your appointment and start the conversation.
Step 2: Ask for a Referral to a Genetics or Epilepsy Specialist
If your healthcare provider is unable to order genetic testing, is unfamiliar with the testing process, or would like additional expertise, ask for a referral to a genetics or epilepsy specialist.
Depending on your needs, you may be referred to a:
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Comprehensive Epilepsy Center
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Genetic counselor
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Medical geneticist
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Neurogenetics clinic
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Pediatric or adult epilepsy specialist
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Other specialty clinic with expertise in genetic epilepsies
A genetics specialist can help you:
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Determine which genetic test is most appropriate
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Explain the benefits and limitations of testing
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Assist with insurance authorization, when needed
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Interpret genetic test results
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Discuss what the results may mean for other family members
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Connect you with additional resources and support
Find a Genetics or Epilepsy Specialist
The resources below can help you locate a genetic counselor, genetics clinic, or epilepsy center.
Step 3: Explore Additional Testing Options
If you're unable to access genetic testing through your current healthcare provider—or simply want to explore other options—there are several additional pathways to consider.
These options may be the fastest, most affordable, or most appropriate route depending on your situation, and they can be explored alongside the steps above.
Additional testing options include:
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Clinical genetic testing services
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Sponsored genetic testing programs
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Research studies
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Advanced diagnostic and undiagnosed disease programs
Clinical Genetic Testing Services
Telehealth genetics providers and specialized clinical programs can help individuals who have limited access to local genetics services or prefer a virtual option. These services typically provide genetic counseling, help determine the most appropriate test, coordinate testing, interpret results, and recommend follow-up care.
Prevention Genetics Patient-Initiated Testing
Sponsored Genetic Testing Programs
Some laboratories, nonprofit organizations, and industry partners offer sponsored programs that provide no-cost or reduced-cost genetic testing and genetic counseling for eligible individuals.
Research Studies
Research studies help advance our understanding of epilepsy, autism, and rare neurodevelopmental disorders. Many include genetic testing, and some return medically meaningful genetic findings to participants.
Academic Medical Center Research Studies
Advanced Diagnostic & Undiagnosed Disease Programs
These programs are designed for individuals who remain without a diagnosis after standard clinical evaluation or previous genetic testing.
Step 4: Choosing a Genetic Testing Laboratory
Regardless of how you access genetic testing, your DNA sample is typically analyzed by a clinical laboratory.
In most cases, you do not need to choose the laboratory yourself. Your healthcare provider or genetics professional will recommend the laboratory that best fits your clinical needs, insurance coverage, and the type of testing being ordered.
Laboratories differ in several important ways, including:
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Areas of expertise
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Types of genetics tests offered
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Insurance participation
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Financial assistance programs
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Sponsored testing opportunities
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Access to genetic counseling
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Patient support services
Whenever possible, look for laboratories that are CLIA-certified and CAP-accredited, which indicate that the laboratory meets rigorous quality standards for clinical genetic testing.
Labcorp (Invitae)
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.
Organization | Resources |
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Start Genetic | |
Practical Neurology | |
OMIM |
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NSW | |
National Society of Genetic Counselors (NSGC) |
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Medine Plus | |
JAMA Network | |
International League Against Epilepsy | |
IEM base |
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Genetic Epilepsy in Adults Network |
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Gene Reviews | GeneReviews provides expert-authored, peer-reviewed, actionable clinical summaries for patient management |
Epilepsy Foundation |
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Epilepsy Currents | |
CURE Epilepsy | |
CLINVAR |
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Child Neurology Foundation |
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BAHLOLAB
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American Epilepsy Society |
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Rare Epilepsy Network |
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Cost & Coverage
The cost of genetic testing depends on the type of test ordered, your insurance coverage, and the laboratory performing the testing. Fortunately, many individuals pay little or nothing out of pocket through insurance coverage, laboratory financial assistance programs, sponsored testing initiatives, 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 require prior authorization or pre-test genetic counseling. Many genetic testing laboratories are in-network with commercial insurance plans and can assist with insurance benefit investigations and prior authorization. In many cases, laboratories will notify you of your estimated out-of-pocket cost before testing is performed if it exceeds a certain amount, allowing you to make an informed decision before proceeding.
Emerging evidence supports earlier testing. 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
If insurance does not cover genetic testing, there are several other options that may significantly reduce or eliminate out-of-pocket costs:
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Laboratory financial assistance programs offering 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 to participants.
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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 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
Many 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.
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The Child Neurology Foundation's Connected Care Network offers free, one-on-one support to help families navigate insurance questions, locate resources, and connect with disease-specific organizations.
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The Epilepsy Foundation also provides information on understanding health insurance, coverage, and appeals.
Tip: If one payment pathway isn't available, ask about another. Many individuals who do not qualify for insurance coverage are still able to access genetic testing through laboratory financial assistance programs, sponsored testing initiatives, research studies, or discounted self-pay pricing.