Diagnosis Information
Should your doctor be considering Shwachman Diamond Syndrome as a diagnosis for you or your child, please provide the doctor with the most recent information regarding the guidelines for diagnosing and treating SDS. The Shwachman Diamond Syndrome Foundation advises that you print and/or email this article to your current or future doctors. The full-text article is below:
This consensus paper was authored by many of the medical advisors for SDSF as well as other international experts on SDS. The components were tabulated by Dr. Johnson Liu and published by the Annals of New York Academy of Sciences.
This article is general information for educational purposes. Please consult a qualified physician for diagnosis and treatment.
Diagnostic testing for SBDS Gene
These centers below are centers that have the capability to do SDS genetic testing. Please consult with your doctor and medical insurance to determine the best option for you.
- SickKids: Division of Molecular Genetics
- GeneDX: DNA Diagnostic Experts
- Johns Hopkins Medical Institutions: DNA Diagnostic Laboratory
- AmbryGenetics
- National Institutes of Health, Genetic testing Registry – a site that lists 18 labs from around the world that tests for the SBDS gene
