Hirschsprung disease

Diagnosis and Testing

Does it matter if you test for for Hirschsprung Disease via blood ,saliva, or biopsy?

Testing for Hirschsprung disease is usually done by biopsy, or taking a small piece of the colon. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. If a genetic or DNA test for Hirschsprung disease is done on blood or saliva, it may not detect all cases of Hirschsprung disease as some forms of Hirschsprung disease are not genetic or are caused by unknown gene mutations. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. To discuss testing for Hirschsprung disease speak with your or your child's physician.

https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies

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