System Checker

The CACNA1A Foundation is proud to partner with Probably Genetic, providing access to genetic testing to find undiagnosed individuals with mutations or variants on their CACNA1A gene. Probably Genetic offers a free comprehensive, patient-initiated genetic testing program focusing on neurodevelopmental syndromes. Eligible individuals receive Whole Exome Sequencing at no cost, which analyzes all the protein-coding regions of your DNA to look for disease-causing mutations. Additionally, The program includes genetic counseling to address any discoveries that may arise during testing. We understand the importance of thoroughly understanding your genetic results and their implications, so we have joined forces with Probably Genetic to make this opportunity more accessible to our community.

Eligibility

If you or a loved one are experiencing symptoms associated with pediatric epilepsy or developmental disorders, we encourage you to apply to the no-cost genetic testing program at Probably Genetic. To participate, individuals must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz, which you can access by the purple “Take the Symptom Checker” button below. Eligible individuals will be provided a sample collection kit conveniently delivered to their doorstep. The kit includes a return pick-up service for easy sample submission.

How it works

  • Go to the Symptom Checker website on any internet-connected device. Please answer the questions in their entirety. It should only take 5-10 minutes.

  • The Probably Genetic team will thoroughly evaluate your Symptom Checker responses to assess your eligibility. This typically occurs within one to two weeks.

  • If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. Probably Genetic can also assist you in scheduling a USPS pick-up.

  • Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those not seizure-related.

  • You can access post-test genetic counseling with a board-certified genetic counselor if genetic testing is offered. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results.

  • View the status of your Symptom Checker submission and test kit through the patient portal. You can download a PDF copy of your genetic report and a file containing your raw genetic data.

By partnering with Probably Genetic, we seek to identify and connect with all individuals currently undiagnosed but potentially affected by CACNA1A. Together, we can pave the way toward better understanding, support, and potential treatment options for CACNA1A.