ExomeDx

The Epilepsy Answers Partnership Program provides comprehensive whole exome sequencing through GeneDx to help identify a genetic cause for childhood epilepsy. Rather than testing just a handful of genes, whole exome sequencing examines roughly 20,000 protein-coding genes at once. This means it can detect a wide range of genetic causes, and it may even find an explanation that was not originally suspected. The program is available for eligible children in the United States.

The test is billed to your insurance first, as it normally would be. If insurance denies the claim or your child is uninsured, the program's three sponsors — Biogen, Praxis Precision Medicines, and Stoke Therapeutics — cover the cost of the test. If your insurance approves the claim, it is processed under your plan like any other lab test, so ask your child's care team how your specific coverage and any cost-sharing would apply.

The Epilepsy Answers Partnership Program uses whole exome sequencing performed by GeneDx. This is a comprehensive test that reads nearly all of your child's protein-coding genes, roughly 20,000 in total. Because it is so thorough, it gives doctors the best chance of finding a genetic explanation for your child's seizures, and it can sometimes reveal causes that a smaller, more targeted gene panel might miss.

Yes, the Epilepsy Answers Partnership Program includes post-test genetic counseling support. After your child's results come back, a genetic counselor can help your family understand what the findings mean, answer questions, and discuss possible next steps. This support is part of the program at no additional cost to you.

No, your child does not need insurance to be eligible. If your child is insured, the test is submitted to your plan as usual. If insurance denies the claim, or if your child has no insurance, the program's sponsors cover the cost of the test. Being uninsured does not prevent your child from qualifying.

Current clinical guidelines support using whole exome sequencing early in the evaluation of unexplained epilepsy because it examines so many genes at once. A smaller gene panel might miss the cause if it does not include the right gene, and sequential rounds of testing can delay answers for months or longer. Whole exome sequencing through the Epilepsy Answers Partnership Program gives your child's doctor a comprehensive look in a single test, which can shorten the journey to a diagnosis.

Patients may qualify for Epilepsy Answers Partnership Program if they meet the program's eligibility criteria:

• The patient resides in the United States
• The patient is under 18 years of age
• The patient had their first unprovoked seizure before 8 years of age
• The patient has not had prior genetic testing that confirmed a diagnosis
• The ordering provider is authorized under applicable law to order genetic testing
• You consent to the program's mandatory data-sharing practices