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Hirschsprung Disease (RET)

New York




  • Familial Medullary Thyroid Cancer
  • Hirschsprung Disease
  • Multiple Endocrine Neoplasia 2A
  • Multiple Endocrine Neoplasia 2B

Clinical Utility

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

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*


ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.