Newborn Screening Glossary

17-hydroxyprogesterone, a steroid hormone measured in newborn screening to detect congenital adrenal hyperplasia.

Pattern of acylcarnitine species measured to detect fatty acid oxidation and organic acid disorders.

A group of inherited metabolic conditions affecting amino acid processing, detectable through newborn screening.

A category of inherited metabolic disorders affecting amino acid metabolism detected through newborn screening.

Concentration span over which a screening assay provides accurate and precise measurements.

A test's ability to correctly identify affected infants with a specific condition.

The ability of a screening test to correctly identify only the target analyte without cross-reactivity.

Automatic specimen order, a request for an additional blood sample when initial screening is inadequate.

Abbreviation for biotinidase, an enzyme measured in newborn screening to detect biotinidase deficiency.

An inherited metabolic disorder affecting biotin recycling, preventable through early detection and vitamin supplementat...

Mathematical correction of screening results based on the infant's birth weight to improve test accuracy.

The controlled drying process of newborn screening specimens on filter paper cards to ensure sample integrity before ana...

A screening result that falls near the cutoff value, requiring careful interpretation and possible repeat testing.

Congenital Adrenal Hyperplasia, a group of inherited disorders affecting cortisol production screened for in newborns.

Identification of individuals who carry one copy of a recessive genetic mutation.

The systematic identification and documentation of all cases of screened conditions.

Acronym for critical congenital heart disease, a group of serious heart defects present from birth.

Documentation system tracking specimen handling from collection through laboratory analysis to ensure integrity.

Inherited urea cycle disorder causing accumulation of citrulline and ammonia.

Clinical Laboratory Improvement Amendments regulations governing laboratory quality standards for patient testing.

Clinical and Laboratory Standards Institute, which provides laboratory practice guidelines including newborn screening p...

Clinical and Laboratory Standards Institute recommendations for newborn screening laboratory procedures.

Compliance with standardized procedures for newborn blood sample collection and handling.

Demonstrated proficiency in newborn screening specimen collection techniques and procedures.