Hirschsprung Disease

Hirschsprung disease is the main genetic cause of functional intestinal obstruction in infants and children, with an incidence of 1 in 5000 births. It is associated with congenital absence of parasympathetic ganglia in the bowel. The majority of patients with HSCR (80%) have a short aganglionic segment (S-HSCR) affecting the region beneath the upper sigmoid. Patients with long-segment HSCR (L-HSCR), representing 20% of cases, have aganglionosis extending to or beyond the splenic flexure. HSCR presents as an isolated finding in ~70% of patients, while ~30% of cases are considered syndromic (associated with either a chromosome abnormality or multiple congenital anomalies). RET is the primary gene underlying HSCR, particularly in families with multiple cases of L-HSCR; however, evidence shows that the phenotype can result from mutations in several other genes with both recessive and dominant inheritance patterns (acting alone or in combination). Notably, RET mutations show incomplete, sex-dependent penetrance and do not always result in the Hirschsprung phenotype.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Determination of appropriate screening and surgical management
  • Identification of at-risk family members
  • Prenatal diagnosis


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs


  • 227 Benign neoplasm of other endocrine glands and related structures Use additional code to identify any functional activity Excludes: ovary (220) pancreas (211.6) testis (222.0)
  • 193 Malignant neoplasm of thyroid gland, Thyroglossal duct
* For price inquiries please email zebras@genedx.com