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.

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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More Diagnosis and Testing Content

Is there newborn testing for Hirschsprung Disease?

Is there more than one test for Hirschsprung Disease?

Who else in my family should I test for Hirschsprung Disease?

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

What does it mean to have a "variant" in the gene for Hirschsprung Disease?

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.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
Is there more than one test for Hirschsprung Disease?

There is more than one test to diagnose Hirschsprung disease. In addition to a biopsy of the colon (the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum), a doctor may do an x-ray of the abdomen, measure how big the rectum is, and/or perform a barium enema which is a special x-ray of the the colon and rectum. For more information on these diagnostic tests speak with your physician or a gastroenterologist.

References
  • "Hirschsprung's disease" Medline Plus. 04 Dec. 2013. https://www.nlm.nih.gov/medlineplus/ency/article/001140.htm
  • 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
Who else in my family should I test for Hirschsprung Disease?

Other family members may need testing for Hirschsprung disease depending on how it was inherited. If Hirschsprung disease is sporadic, meaning there is no clear genetic link, then it is likely that no one else in the family will need testing. If there is evidence that Hirschsprung disease was caused by a specific gene, other family members may need genetic testing, such as parents of the patient, the patient's siblings, and the patient's future children. 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. If Hirschsprung disease is present because it is associated with a syndrome, check with your physician or genetics team to see if testing is necessary for other members of the family.

References
  • "Hirschsprung Disease" Genetics Home Reference. Aug. 2012. http://ghr.nlm.nih.gov/condition/hirschsprung-disease
  • "Hirschsprung Disease Overview" GeneReviews. 01 Oct. 2015. Web. 14 Jun. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1439/
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.

References
  • https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
What does it mean to have a "variant" in the gene for Hirschsprung Disease?

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. A variant in a gene associated with Hirschsprung disease may or may not result in Hirschsprung disease. This is because Hirschsprung disease has reduced or incomplete penetrance. Reduced or incomplete penetrance means that some people with a gene change or mutation associated with Hirschsprung disease do not have Hirschsprung disease.

To learn more about genetic changes causing Hirschsprung disease speak with your child's physician about genetic testing for Hirschsprung disease.

References
  • "Hirschsprung Disease" Genetics Home Reference. Aug. 2012. http://ghr.nlm.nih.gov/condition/hirschsprung-disease
  • "Hirschsprung Disease Overview" GeneReviews. 01 Oct. 2015. Web. 14 Jun. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1439/

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