Shwachman-Diamond syndrome

How is Shwachman-Diamond syndrome usually diagnosed?

SDS can be identified with the following tests:

• bloodwork to evaluate a child’s white blood cells, red blood cells and platelets, as well as the functioning of her kidney, liver and pancreas
• pancreatic stimulation testing
• stool collection
• skeletal survey (which evaluates the bones)
• a full bone marrow exam in which samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn with a needle under anesthesia
• in some cases, genetic testing