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

Ordering

TB20
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
  • 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

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

EDN3, EDNRB, KIT, KITLG, MITF, PAX3, SNAI2, SOX10
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Ordering

TL50
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.