top of page
Genetic / Metabolic Resources

Useful Web Sites for Clinical Practice 
provides guidelines and ACT sheets for metabolic newborn management (you can google ACT sheets). This is your first step if a newborn screen is abnormal. 
(acute illness protocols for metabolic diseases)
a great reference for genetic syndromes (provides management guidelines)
allows searching the latest clinical trials
Phenomizer - a genetics search engine:
A Genetic Testing Registry
(AAP policy statements) 
has pamphlets for specific microdeletion/ duplication syndromes

bottom of page