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.
Curated directory of genetic counselors with expertise in epilepsy, including pediatric and adult providers, telehealth availability, and practice information.
Directory of Level 3 and Level 4 epilepsy centers with multidisciplinary expertise often including genetic counseling and testing.
Directory of specialty clinics with expertise in rare epilepsy disorders.
Searchable directory of genetic counselors by specialty, state, telehealth availability, and language.
Directory of medical geneticists and genetics clinics across the U.S.
Searchable directory of genetic counselors in Canada.
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
Virtual genetic counseling, clinical test ordering, insurance support, and post-test counseling.
Telehealth genetic counseling, insurance navigation, and testing guidance through participating health plans and employers.
Telehealth genetic counseling that supports healthcare providers with test selection, ordering, interpretation, and patient counseling.
Independent nonprofit offering genetic counseling, education, and genetic testing guidance.
Patient-initiated clinical genetic testing available in certain states and circumstances.
Individuals seeking virtual genetics care.
Individuals whose insurance includes InformedDNA services.
Individuals whose provider partners with Metis Genetics.
Individuals seeking unbiased education before pursuing testing.
Individuals seeking direct access to testing where available.
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.
No-cost genetic counseling, testing, and specialist follow-up for eligible infants and young children with signs of rare genetic neurodevelopmental disorders.
Free clinical genetic testing and genetic counseling through participating laboratory partners.
Sponsored testing opportunities for selected neurological and rare genetic disorders (for example, SHANK3 Inform Partnership Program).
Connects families with telehealth genetics providers who can evaluate whether exome or genome sequencing is appropriate and order testing when indicated. Appointments are typically available within one week.
May reduce or eliminate out-of-pocket costs for eligible uninsured individuals or those whose insurance denies coverage for exome testing.
Financial assistance programs that help reduce out-of-pocket testing costs for eligible patients.
Eligible infants and young children.
Individuals facing financial or access barriers
Individuals who meet program eligibility requirements.
Individuals without access to local genetics services.
Individuals facing financial or insurance barriers.
Individuals needing financial support.
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
Individuals interested in research participation or additional testing opportunities.
Research studies at universities, children's hospitals, and epilepsy centers that may include advanced genetic testing.
National autism research study that includes genetic testing for eligible participants and returns medically significant genetic findings.
Directory of autism and neurodevelopmental research studies, many of which include DNA collection.
Research initiatives focused on rare and undiagnosed neurodevelopmental disorders.
Searchable registry of clinical research studies worldwide, including studies involving genetic testing, natural history, gene therapy, and rare epilepsies.
Individuals with autism, including many who also have epilepsy.
Families interested in research participation.
Individuals and families still searching for a diagnosis.
Individuals looking for actively recruiting studies related to a specific disorder or gene.
Advanced Diagnostic & Undiagnosed Disease Programs
These programs are designed for individuals who remain without a diagnosis after standard clinical evaluation or previous genetic testing.
Broad Institute research program providing no-cost genome sequencing for eligible individuals with suspected rare genetic diseases. The program works directly with healthcare providers to obtain medical records and coordinate participation.
NIH-funded multidisciplinary evaluation using advanced genomic technologies and expert clinical evaluation.
NIH research consortium focused on identifying the genetic causes of previously unexplained rare diseases using advanced genomic technologies.
Individuals with suspected rare genetic disorders who have not yet received a diagnosis.
Individuals with complex medical conditions that remain undiagnosed after standard evaluation.
Individuals whose previous exome or genome sequencing did not identify a diagnosis.
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)
Broad hereditary disease testing with optional genetic counseling.
Rare disease diagnostics and genomic testing.
Rare disease gene panels, exome sequencing, and specialized diagnostics.
Broad clinical genomic testing.
Exome and genome sequencing, epilepsy expertise, and sponsored testing programs.
Clinical genetic testing with optional genetic counseling.
Neurogenetic, metabolic, mitochondrial, and epilepsy-related testing.
Rare disease testing and patient-initiated testing in select states.
Clinical laboratory and genetic testing services.
Healthcare provider
Healthcare provider
Healthcare provider
Healthcare provider
Healthcare provider or Genome Medical telehealth
Healthcare provider
Healthcare provider
Healthcare provider or eligible patient-initiated access
Healthcare provider
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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