© 2019 American Academy of Pediatrics New York Chapter 1

Genetic / Metabolic Resources

Useful Web Sites for Clinical Practice

http://bit.ly/1F22plb 
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. 

http://newenglandconsortium.org/ 
(acute illness protocols for metabolic diseases)

www.genetests.org
a great reference for genetic syndromes (provides management guidelines)

https://www.clinicaltrials.gov/
allows searching the latest clinical trials

http://compbio.charite.de/phenomizer/
Phenomizer - a genetics search engine: 

http://www.ncbi.nlm.nih.gov/gtr/
A Genetic Testing Registry


https://www.aap.org/en-us/about-the-aap/Councils/Genetics/Pages/COG.aspx
(AAP policy statements)

www.rarechromo.org 
has pamphlets for specific microdeletion/ duplication syndromes