Neonatal Screening Glossary
100 terms total — 4 showing — Last updated 15 Sep 2026
false positive rate
The percentage of screening tests that incorrectly identify healthy newborns as having a condition they do not actually have.
unsatisfactory specimen
Blood spot specimen that fails to meet quality criteria for accurate analysis, requiring recollection.
VLCADD
Very long-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder with variable clinical severity.
X-linked adrenoleukodystrophy screening
Newborn screening for a genetic disorder affecting the nervous system and adrenal glands by measuring very long-chain fa...
β-ketothiolase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency, detected through elevated 2-methylacetoacetyl-CoA and tiglylcarnitine...