Hunter’s Hope advocates screening for five Lysosomal Storage Diseases (Krabbe, Pompe, Gaucher, Niemann-Pick, and Fabry) that can be cost-effectively screened together, and for the 54 diseases recommended by the American College of Medical Genetics (ACMG) and the Secretary Advisory Committee on Heritable Disorders in Infants and Newborns.

The ACMG recommendation can be found in the Executive Summary of Newborn Screening: Toward a Uniform Screening Panel and System.

Recommended Panel of Diseases