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Neurology / GeneticsEpilepsy

ExomeDx

GeneDx ExomeDx whole exome sequencing for pediatric epilepsy — billed to insurance, with partner coverage when insurance denies the claim or the patient is uninsured. Co-sponsored by Biogen, Praxis, and Stoke.

Accessed through the Epilepsy Answers Partnership Program Sponsored Testing Program•Sponsored by Biogen, Praxis Precision Medicines, Stoke Therapeutics•Performed by GeneDx

Designed to support clinical decision-making and ordering in your practice.

For healthcare providers

Overview

The Epilepsy Answers Partnership Program lowers the financial barrier to an exome-first strategy in pediatric epilepsy. Co-sponsored by Biogen, Praxis Precision Medicines, and Stoke Therapeutics, the program covers the cost of GeneDx ExomeDx whole exome sequencing when insurance denies the exome claim or the patient is uninsured. Because the test is billed to the payer first, existing reimbursement pathways are unaffected, and you can enroll all eligible patients regardless of coverage status. When a claim is approved it is adjudicated under the patient's plan in the usual way. Post-test genetic counseling support is included, and the comprehensive exome approach aligns with current guideline recommendations for unexplained pediatric epilepsy.

When to consider this test

Patient selection

  • Residence in the United States
  • Less than 18 years of age
  • Experienced their first unprovoked seizure before 8 years of age
  • Has not had prior genetic testing performed by a clinical laboratory which confirmed a diagnosis
  • The ordering provider is authorized under applicable law to order genetic testing
  • Consented to the program's mandatory data-sharing practices

Workflow

How to use this program

  1. 1

    Identify eligible patients

    Consider patients with suspected or confirmed ARVC, concerning arrhythmias, or relevant family history.

  2. 2

    Order through your usual workflow

    Use your standard ordering process for submitting tests to Example Genetics Lab (portal or existing workflows).

  3. 3

    Integrate results into management

    Use results to refine diagnosis, guide cascade testing, and inform monitoring and treatment decisions.

  4. 4

    Plan follow-up and cascade testing

    Determine downstream actions including surveillance, family member testing, and long-term management plans.

Billing overview

Program billing

For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.

Quality & privacy

Laboratory quality & data handling

Testing is performed by GeneDx, a CLIA-certified laboratory (CLIA CLIA 12D3456789). Your sample is processed using validated methods and quality controls to support reliable genetic results.

Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.

FAQ

Frequently asked questions

Which patients are appropriate for the Epilepsy Answers Partnership Program's sponsored exome sequencing?

The Epilepsy Answers Partnership Program is designed for U.S.-based pediatric patients who meet the program's defined eligibility criteria. Providers can enroll patients with or without insurance coverage. The program is structured so that an insurance denial or lack of coverage does not prevent an eligible patient from accessing whole exome sequencing — in those cases the sponsors cover the cost of the test.

What does the Epilepsy Answers Partnership Program's whole exome sequencing test cover?

The program utilizes GeneDx ExomeDx whole exome sequencing, which interrogates approximately 20,000 protein-coding genes. This comprehensive scope supports identification of both expected and unanticipated genetic etiologies for epilepsy, offering diagnostic yield advantages over targeted panel approaches. When the initially suspected diagnosis is not confirmed, the breadth of the exome can still uncover an actionable genetic finding.

How does reimbursement work under the Epilepsy Answers Partnership Program?

The Epilepsy Answers Partnership Program is a reimbursement-assurance model, not a free-upfront program. The ExomeDx test is billed to the patient's insurer through GeneDx's standard process. If the payer denies the exome claim, or if the patient is uninsured, the program's three sponsors — Biogen, Praxis Precision Medicines, and Stoke Therapeutics — cover the cost of the test. When a claim is approved, it is adjudicated under the patient's plan in the usual way, so existing reimbursement workflows remain intact.

How do I order whole exome sequencing through the Epilepsy Answers Partnership Program?

Ordering involves logging into the GeneDx provider portal or connecting with your GeneDx representative, selecting any ExomeDx test, and applying the program code ESEPL. A program-specific test requisition form is available on the GeneDx website. Your GeneDx representative can assist with enrollment and logistics.

Does ordering through the Epilepsy Answers Partnership Program create any prescribing or purchasing obligation?

No. Ordering through the Epilepsy Answers Partnership Program carries no prescribing, purchasing, or other commercial obligation to Biogen, Praxis Precision Medicines, Stoke Therapeutics, or GeneDx. The program exists to close access gaps in guideline-recommended exome testing for pediatric epilepsy, and clinical decision-making remains entirely with the treating provider.

Is post-test genetic counseling available through the Epilepsy Answers Partnership Program?

Yes, the Epilepsy Answers Partnership Program includes post-test genetic counseling support through GeneDx. This resource is available to help clinicians and families interpret results, discuss implications, and plan next steps. It is provided as part of the program at no additional cost.

Does the Epilepsy Answers Partnership Program require data sharing?

Yes, the Epilepsy Answers Partnership Program includes mandatory data-sharing practices. Patient consent to these practices is required for enrollment. Details of the data-sharing terms are outlined in the program's consent documentation, which should be reviewed with the patient's family prior to ordering.

Which patients are eligible for Epilepsy Answers Partnership Program Epilepsy genetic testing?

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

  • Residence in the United States
  • Less than 18 years of age
  • Experienced their first unprovoked seizure before 8 years of age
  • Has not had prior genetic testing performed by a clinical laboratory which confirmed a diagnosis
  • The ordering provider is authorized under applicable law to order genetic testing
  • Consented to the program's mandatory data-sharing practices

Test details

  • ConditionEpilepsy
  • Test typeWhole Exome Sequencing
  • Genes / markers
    20000
  • Key genes / markersSCN1A, SCN2A, SCN8A, KCNQ2, KCNT1, STXBP1, CDKL5, MECP2, FOXG1, PRRT2, GABRA1, PCDH19, SLC2A1, TSC1, TSC2, DEPDC5
  • SpecimenWhole blood•Saliva•Buccal swab
  • Turnaround timeNot specified
  • LabGeneDx

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

GeneDx

Print requisitionOrder collection kitLearn more

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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