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- a full bone marrow exam in which samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn with a needle under anesthesia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