Hirschsprung disease

Diagnosis and Testing

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.

"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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