Newborn Screening Glossary
100 terms total — 4 showing — Last updated 15 Sep 2026
critical sample
A newborn screening specimen that requires immediate processing due to abnormal results or urgent clinical circumstances.
unsatisfactory for testing
A specimen classification indicating the sample cannot be analyzed due to collection or handling problems.
unsatisfactory specimen
A blood spot sample that fails to meet quality criteria for reliable screening analysis.
variant of uncertain significance
Genetic variants identified through screening whose clinical significance is not yet established.
VLCAD deficiency
Very long-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder.