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Understanding
Okur-Chung Neurodevelopmental Syndrome

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Understanding
Okur-Chung Neurodevelopmental Syndrome

How to Help Patients Access Genetic Testing

CSNK2A1 Foundation is proud to partner with Probably Genetic, aimed at enhancing access to genetic testing to find undiagnosed individuals with Okur-Chung Neurodevelopmental Syndrome (OCNDS). Probably Genetic offers a free comprehensive, patient-initiated genetic testing program that focuses on neurodevelopmental syndromes. This program includes genetic counseling to address any discoveries that may arise during the testing process. 


To initiate the process, patients can complete a quiz on the Probably Genetic website. Eligible individuals will be granted a sample collection kit, which will be conveniently delivered to their doorstep. The kit includes a return pickup service for easy sample submission. Once patient samples have been received at the laboratory, results will be delivered within 6-8 weeks. Probably Genetic offers genetic counseling services virtually or over the phone.

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Probably Genetic

CSNK2A1 Foundation is proud to partner with Probably Genetic, aimed at enhancing access to genetic testing to find undiagnosed individuals with Okur-Chung Neurodevelopmental Syndrome (OCNDS). Probably Genetic offers a free comprehensive, patient-initiated genetic testing program that focuses on neurodevelopmental syndromes. This program includes genetic counseling to address any discoveries that may arise during the testing process. We understand the importance of having a thorough understanding of your genetic results and their implications, which is why we have joined forces with Probably Genetic to make this opportunity more accessible to our community. 


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 initiate the process, simply complete the brief quiz provided below. Eligible individuals will be granted a sample collection kit, which will be conveniently delivered to their doorstep. The kit includes a return pickup service for easy sample submission. 


Once your samples have been received at the laboratory, you can expect your results to be delivered within 6-8 weeks. Probably Genetic offers genetic counseling services virtually or over the phone to guide you through your results and provide further insights into your condition. 


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

Building an OCNDS Resource with Probably Genetic 

If you already have an OCNDS diagnosis, we encourage you to submit a response in the symptom checker, including a facial photo of your loved one with OCNDS. This will generate a “training set” – an OCNDS-specific resource for the community. We have 9 completed submissions and our goal is to have 25 completed profiles by the end of 2024. Estimated time to complete: 15 minutes.


International residents can still submit the symptom checker and provide a photo. For the phone number and address questions, please use the foundation’s information to ensure it is submitted: 


1929 Van Ness Avenue 

San Francisco, CA 94109 

(415) 501-0147

Project Find Out

Learn more about Project FIND-OUT, which provides free genetic counseling and testing for infants between the ages of 3-12 months, and whether your baby might be eligible.


The path to understanding and treating genetic neurodevelopmental disorders in children can be long and full of unknowns. This is why we are excited to highlight the work of COMBINEDBrain, a non-profit organization dedicated to reducing the time to diagnosis for these families through Project FIND-OUT. 

Learn More
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GUARDIAN Study - Available in New York for Newborns

The CSNK2A1 gene is a group 2 gene in the GUARDIAN study. The study is open to babies born at NewYork-Presbyterian Hospitals. GUARDIAN is a research study that screens newborns for over 450 genetic conditions not currently screened as part of standard newborn screening. The purpose of this study is to find babies who have these conditions so they can have the best chance to live a healthier life. The study is free. There is no cost to you or your insurance company. This study is different from the Standard Newborn Screening, also known as the Newborn Screening Program. Additional blood samples are NOT needed to participate in this study.


CSNK2A1 is a group 2 condition meaning there are no medicines to treat for OCNDS yet. Medicines may be in development, although we don’t know how well they will work. Early diagnosis of these conditions can support you and your child with early intervention services including physical therapy, occupational therapy, and speech therapy. It may also allow your child to start treatment or interventions if or when they become available, as well as to be part of research studies investigating new treatments.


You can learn more about the GUARDIAN study by visiting their webpage or calling or emailing the study team:

guardian-study.org

guardiastudy@cumc.columbia.edu

718-514-4947

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