Resources for Undiagnosed
One of Cri du Chat Research Foundation’s goals is to find more patients. 5p- syndrome is surprisingly common, with the incidence reported as 1 per 15,000.
Simons Searchlight
Cri du Chat Research Foundation has partnered with Simons Searchlight (insert link here) to increase access to genetic testing within our community. Simons Searchlight will provide a no-cost genetic test using a cheek swab for individuals with a clinical diagnosis only (a doctor told you your child likely has 5p- syndrome but the blood test was never completed or didn’t exist at that time.) If you or a loved one are experiencing symptoms associated with 5p- syndrome you can email info@criduchatresearch.org to request the test. Eligible individuals receive a sample collection kit mailed directly to their home, with a return pickup service included. Results are delivered 6-8 weeks after samples are received at the lab, with genetic counseling conducted virtually or over the phone.
Project FIND-OUT
Cri du Chat Research Foundation’s partner COMBINEDBrain has launched Project FIND-OUT, a new program to help facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants between the ages of 3-12 months in the United States.
Learn more at the Project FIND-OUT website.