Newborn Screening Glossary

Definitive diagnostic tests performed after an abnormal newborn screening result.

Severe heart defects present at birth requiring intervention within the first year of life.

A newborn screening specimen that requires immediate processing due to abnormal results or urgent clinical circumstances...

The predetermined threshold used to distinguish normal from abnormal screening results.

The practice of applying different cutoff values based on infant characteristics such as birth weight or gestational age...

Risk-based screening strategies that focus on specific population groups.

Blood sample collected on filter paper for newborn screening analysis.

Laboratory technique that separates proteins or nucleic acids based on their electrical charge and size.

The process of extracting analytes from dried blood spots using a solvent for laboratory analysis.

Hormonal disorders detectable through newborn screening, primarily congenital hypothyroidism and congenital adrenal hype...

Inherited condition where reduced enzyme activity disrupts normal metabolic processes detected by screening.

A screening test result that incorrectly indicates the presence of a condition.

Specialized absorbent paper cards used to collect and transport dried blood spot specimens.

An analytical method using fluorescence detection to measure enzyme activity or substrate concentration.

A rare genetic disorder affecting galactose metabolism that can cause severe complications if untreated, detected throug...

Galactose-1-phosphate uridyltransferase, the enzyme measured to screen for classic galactosemia.

A filter paper card used to collect and store dried blood spots for newborn screening laboratory analysis.

Any inherited disorder affecting hemoglobin structure or production, screened for in newborns to detect conditions like...

Inherited disorder of methionine metabolism causing elevated homocysteine levels.

Pancreatic enzyme precursor measured in newborn screening to detect cystic fibrosis through elevated levels.

Insufficient blood sample quantity preventing accurate newborn screening analysis.

Quality assurance measures performed within the laboratory to monitor analytical performance and reliability.

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

Newborn screening specimens collected beyond the optimal timing window, potentially affecting test accuracy.