Neonatal Screening Glossary

The proportion of affected infants who receive normal screening results, representing missed cases in the screening prog...

The percentage of screening tests that incorrectly identify healthy newborns as having a condition they do not actually...

Quality control testing performed on each batch of collection cards before use.

Automated analytical technique used in newborn screening for rapid, sequential measurement of metabolites in dried blood...

Standardized procedures for managing abnormal screening results, including notification, referral, and case tracking.

A genetic disorder affecting the body's ability to metabolize galactose, a sugar found in milk and dairy products.

Galactokinase deficiency and UDP-galactose-4-epimerase deficiency, rare variants of galactosemia detected through enzyme...

Galactose-1-phosphate uridyltransferase, the enzyme measured to detect galactosemia.

Glutaryl-CoA dehydrogenase deficiency, a metabolic disorder detected through elevated glutarylcarnitine levels in newbor...

A standardized filter paper card used to collect dried blood spots from newborns for screening tests.

Audiological testing performed on newborns to detect congenital hearing loss before discharge from the hospital.

Standard blood collection procedure for neonatal screening where a small puncture is made in the infant's heel to obtain...

Inherited disorders affecting hemoglobin structure or production, including sickle cell disease and thalassemias.

Pancreatic enzyme measured in newborn screening as the primary marker for cystic fibrosis detection.

A pancreatic enzyme precursor measured as the primary screening marker for cystic fibrosis in newborns.

Immunoreactive trypsinogen, a pancreatic enzyme measured in newborn screening to detect cystic fibrosis.

Quantitative analytical technique using stable isotope-labeled internal standards for accurate metabolite measurement in...

A rare lysosomal storage disorder affecting the nervous system, included in expanded newborn screening panels in some ju...

A molecular test measuring kappa-deleting recombination excision circles to assess B-cell function in newborn screening.

Laboratory and Medical Protocols; standardized procedures for specimen handling and testing in newborn screening program...

The adjustable penetration depth of automated lancets used for newborn blood collection.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder identified through acylcarnitine...

A calculated ratio used to distinguish maple syrup urine disease from other aminoacidopathies.

Freeze-dried state of reference materials or quality control samples used in newborn screening assays for enhanced stabi...