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Rare Genomes Project

Timely and accurate diagnosis of SDS is critical for patients to access optimal care, education, and community support. We have assembled resources for possible patients and their healthcare providers to access no-cost testing options, wherever you are. This page is dedicated to our partnership with the Rare Genomes Project to provide access to Whole genome Sequencing on a research basis, to US residents. If this program doesn't work for you, please check out or other resources or email us at


We are excited to announce our new collaboration with the Rare Genome Project. It is a free and remote research program using genomic sequencing to look for the genetic cause of rare diseases, such as Shwachman-
Diamond Syndrome (SDS). Eligible families will be asked to provide a blood sample and medical information. If a result is found, we will work with your doctor to confirm the result.

Note: This research process takes longer than routine genetic testing and not all families will have a result identified.


  • Have a clinical suspicion for Shwachman-Diamond Syndrome, including a history of two or more of the following symptoms:

  • Exocrine pancreatic insufficiency (EPI): Decreased pancreatic enzymes (serum trypsinogen or pancreatic isoamylase), decreased fecal elastase, malabsorption, or steatorrhea
  • Hematologic abnormalities: Cytopenias including neutropnia, hypocellular bone marrow, bone marrow failure, or MDS/AML
  • Skeletal dysplasia: Rib cage/thoracic abnormality, metaphyseal dysostosis, extremity abnormalities, scoliosis, or abnormal bone density


  • Have a suspected genetic cause that has not been identified due to prior testing being negative or inconclusive OR a lack of access to genetic testing. This means that patients who have received genetic testing previously ARE eligible to participate, as long as prior testing has not yielded a diagnosis.

  • Live in the United States


A "history of" means that these symptoms may have happened in the past and resolved by the time testing is considered. Patients should still be tested for SDS even if symptoms have already resolved, or were very mild.

Learn more or apply

Contact the Rare Genomes Project team directly 

Phone: (855) 534-4300


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