To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance.
How it works
Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes.
The Probably Genetic team will thoroughly evaluate your Symptom Checker response 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. We 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 that are not seizure-related.
If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. 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/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data.
Take the Symptom Checker Here:
https://www.csnk2a1foundation.org/genetic-symptom-checker
The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!
We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives.
CSNK2A1
Foundation is operated and funded through a committed team of volunteers, advocates and researchers.
We are a 501(c)(3) non-profit organization.
EIN #82-4220939.
Address: 1929 Van Ness Avenue, San Francisco, CA 94109
Phone:
(415) 501-0147
Email:
info@csnk2a1foundation.org
The information provided is not intended to be a substitute for professional medical advice, diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on this website. Read more...
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