Diagnosis and Testing
Is there newborn testing for Hirschsprung Disease?
Hirschsprung disease is not included in the newborn screen done for all new babies. However, a biopsy can be taken from a newborn to diagnose the disease. If your child displays symptoms of Hirschsprung disease such as inability to pass stool (fecal matter), vomiting, or diarrhea, speak to their physician about a possible diagnosis of Hirschsprung disease.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hirschsprung-disease/diagnosis-testing/3071 • DATE UPDATED: 2016-06-15
"Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies