← Back to Neonatal Screening
Neonatal Screening Glossary
100 terms total — 1 showing — Last updated 26 Oct 2026
Term of the Day
Pompe disease screening GAA
Professional
Technical
IVT
Enzymatic assay measuring acid alpha-glucosidase activity in dried blood spots to detect glycogen storage disease type II.
26 Oct 2026
See full entry →
Showing 1–1 of 100
acylcarnitine profile
Professional
Technical
IVT
Laboratory test measuring various acylcarnitines in blood to detect fatty acid oxidation disorders and organic acidurias...
Technical Term
Full entry →