Clinicopathologic features of allied disorders of Hirschsprung disease and status update

Table 1 Diagnostic techniques

Diagnostic method	Application purpose	Advantage	Limitation
Rectal mucosal biopsy	Detect the deficiency of ganglion cells	Gold standard, high accuracy	It is invasive and may require multiple samplings
Anorectal manometry	Evaluate the rectoanal inhibitory reflex	Non-invasive, functional assessment	Infants and toddlers have a poor cooperation for this method
Genetic test (for example: RET gene)	Screen for genetic mutations	Assists in the diagnosis of familial cases	High cost and limited positive rate