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Shwachman-Diamond Syndrome
SBDS
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that includes pancreatic exocrine insufficiency and hematological abnormalities as consistent features. Other common manifestations include skeletal abnormalities, short stature, liver dysfunction and increased risk of malignancy. Serious infections and acute myeloid leukemia are major causes of mortality and morbidity. The syndrome is caused by the partial, not complete, deficiency of the novel protein encoded by the SBDS gene, thought to be involved in RNA metabolism. Analysis is performed by bi-directional sequencing of the coding regions and splice sites of exons 1-5 of the SBDS gene. For more details see the Information Sheet linked below.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Shwachman-Bodian, Shwachman Diamond, Shwachman-Diamond, Pancreatic insufficiency, exocrine, steatorrhea, malabsorption, anemia, nephrocalcinosis, bone marrow failure, bone marrow, Congenital Lipomatosis of Pancreas , pancreatic lipomatosis, leukemia, short stature, SBDS, SDS, failure to thrive
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