Hirschsprung disease

Diagnosis and Testing

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.

"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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