Hirschsprung disease

Diagnosis and Testing

How do I get tested for Hirschsprung Disease?

In order to diagnose Hirschsprung disease, a doctor may take a piece of the colon, called a performing a colon biopsy. 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 there are no nerve cells in the colon biopsied, this confirms that a person has Hirschsprung disease.

Genetic testing can also be used to aid in diagnosing Hirschsprung diease. 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. Genetic testing involves looking at DNA that makes up genes to identify changes that may be causing conditions like Hirschsprung disease. DNA testing is available for the RET gene which can cause Hirschsprung disease, but is not routinely ordered.

If you are interested in diagnostic testing for Hirschsprung disease for yourself or your child speak with your physician about making this diagnosis.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hirschsprung-disease/diagnosis-testing/3070 • DATE UPDATED: 2016-06-15

References

"Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies

Wesson, David. "Congenital aganglionic megacolon (Hirschsprung disease)" UpToDate. May 2016. Web. 14 Jun. 2016. http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease?source=search_result&search=Hirschsprung%E2%80%99s+Disease&selectedTitle=1~66

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