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Table 10 Recommendations for genetic screening of patients with HSCR

From: ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

In non-syndromic HSCR, genetic testing ofRETshould be considered
• RET remains the major gene in HSCR
• Molecular testing allows a more accurate estimation of the risk of recurrence
• Genetic testing of RET allows exclusion of the rare possibility of MEN 2A-associated RET mutation that is associated with an increased risk of medullary thyroid cancer
• Parents or patients who wish to have genetic screening should be offered referral for genetic consultation
• Genetic consultation is also recommended for patients with a family history of HSCR, where the incidence of RET mutations is even higher
Level of evidence II-III
Strength of recommendation: Conditional, for
Level of agreement: 100%
In syndromic HSCR, patients should be offered referral for genetic consultation and screening for the specific gene associated with the syndromic phenotypeLevel of evidence III
Strength of recommendation: Conditional, for
Level of agreement: 100%