As a provider, consider recommending genetic testing if your patient has any of the following symptoms, especially in combination or without a clear structural, metabolic, or acquired etiology.
- Unexplained seizures or epilepsy (especially infantile or drug-resistant onset)
- Developmental delays or learning milestones missed
- Autism spectrum disorder (ASD)
- Loss of previously learned skills or abilities
- Low muscle tone or unexplained movement coordination problems
- A family history of seizure disorders or known genetic anomalies
- Multiple medical challenges that seem syndromic (affecting heart, vision, hearing, or kidneys alongside neurological issues)
Rather than an add-on or “nice-to-have,” genetic testing is a critical diagnostic tool that can provide precision therapies and change outcomes for your patients. Providers should feel empowered to take the testing process into their own hands.
Key Referral & Diagnostic Pathways:
Accessing genetic testing can be confusing and highly variable. The optimal pathway depends on your location, practice setting, and the patient's insurance coverage.
Direct Clinician Ordering
Read the FAQ on specialized diagnostic testing for early-onset epilepsies.
Medical Genetics Referral
Refer to pediatric genetics or neurogenetics clinics for comprehensive exome or genome sequencing.
Overcoming Challenges
Find alternative options for testing, like research, sponsors, and undiagnosed networks.
Additional Support
Visit Start Genetic to explore sponsored, low-cost, or rapid testing programs.
Resources
If you’d like to speak to someone for support, call the Epilepsy Foundation Helpline at 1-800-332-1000.
Epilepsy Learning Portal
Take courses online and on demand about seizures and epilepsy.
Start Genetic
Start Genetic works to break barriers of genetic testing to increase access and understanding.
Patient Resources
Share patient-friendly resources about genetic causes and testing.
Personal Stories
Genetic testing makes a difference. Read about a family's journey with PCDH19.
Experts All Support Early Genetic Testing
- Unexplained epilepsy: The National Society of Genetic Counselors recognizes genetic testing as an important part of evaluating unexplained epilepsy, helping to identify underlying causes and inform treatment decisions.
- Intellectual disability or global developmental delay: The American Academy of Pediatrics highlights genetic evaluation as a core component of the diagnostic workup, supporting earlier diagnosis and more informed care planning.
- Autism spectrum disorder: The American Academy of Pediatrics includes genetic testing in its clinical guidance for autism spectrum disorder, citing its value in identifying genetic causes and informing ongoing medical management.
This content was developed in partnership by the Epilepsy Foundation, Rare Epilepsy Network and StartGenetic.