Neonatal Screening Glossary
100 terms total — 4 showing — Last updated 26 Oct 2026
Pompe disease screening GAA
Enzymatic assay measuring acid alpha-glucosidase activity in dried blood spots to detect glycogen storage disease type II.
LCHADD
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder identified through acylcarnitine...
mucopolysaccharidosis screening
Enzymatic testing in dried blood spots to detect lysosomal storage disorders affecting glycosaminoglycan metabolism.
punching pattern
The systematic arrangement of specimen punches from dried blood spot cards for testing.
Tay-Sachs disease
A lysosomal storage disorder caused by hexosaminidase A deficiency, screened in some populations through enzyme activity...