Neonatal Screening Glossary

A steroid hormone measured in newborn screening to detect congenital adrenal hyperplasia.

3-methylcrotonyl-CoA carboxylase deficiency, an organic acidemia detected through elevated 3-hydroxyisovalerylcarnitine...

Laboratory test measuring various acylcarnitines in blood to detect fatty acid oxidation disorders and organic acidurias...

The infant's chronological age when the blood sample is obtained, critical for proper interpretation of screening result...

A group of inherited metabolic disorders affecting amino acid processing, commonly detected through newborn screening pr...

The specific biochemical substance measured in newborn screening tests to detect metabolic or genetic disorders.

A urea cycle disorder detected through elevated citrulline levels in newborn screening amino acid analysis.

An enzyme measurement used to detect biotinidase deficiency in newborn screening.

An inherited disorder affecting biotin recycling, causing neurological symptoms if untreated but preventable with biotin...

The frequency of occurrence of a specific condition among newborns in a defined population, usually expressed per number...

An octanoyl carnitine ester elevated in medium-chain acyl-CoA dehydrogenase deficiency.

Congenital adrenal hyperplasia, a group of genetic disorders affecting steroid hormone production, screened via 17-hydro...

A urea cycle disorder characterized by elevated citrulline levels, detected through amino acid analysis in newborn scree...

Definitive diagnostic testing performed after a positive newborn screening result to confirm or rule out the suspected c...

A condition present at birth where the thyroid gland does not produce sufficient thyroid hormone for normal development.

Carnitine palmitoyltransferase I deficiency, a fatty acid oxidation disorder affecting hepatic enzyme activity.

Life-threatening heart defects present at birth that require intervention within the first year of life.

Laboratory threshold used to distinguish normal from abnormal newborn screening results for each tested condition.

A genetic disorder affecting the lungs and digestive system through abnormal production of thick, sticky secretions.

Modification of reference ranges based on the infant's age at specimen collection.

Dried blood spots collected on filter paper for newborn screening laboratory analysis.

Laboratory technology using electrical forces to manipulate discrete droplets for automated newborn screening assays.

Mass spectrometry ionization technique used to convert liquid samples into gas-phase ions for metabolite analysis in new...

Component of newborn screening focused on detecting hormonal and metabolic conditions affecting endocrine system functio...