Shwachman-Diamond Syndrome (SDS) is a genetic disorder. Symptoms vary widely from patient to patient, and over time. And so does access to genetic testing.
The SDS Alliance is committed to helping all SDS patients, anywhere in the world, shorten the "diagnostic odyssey" and lower the barriers to genetic testing.
On this page, you can find resources organized by region. If you have any questions or need assistance, please email us at connect@SDSAlliance.org.
SDS Alliance has partnered with Probably Genetic to increase access to genetic testing within our community. At the moment, this service is only available to patients residing in the United States, in any state except NY.
Probably Genetic’s no-cost genetic testing program for immunodeficiencies is patient-initiated and includes genetic counseling to explain any questions or findings. If you or a loved one are experiencing symptoms associated with frequent infections, chronic neutropenia and/or low Ig antibodies, you can apply to the program by completing the short quiz below. 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.