Neonatal Screening Glossary

The systematic arrangement of specimen punches from dried blood spot cards for testing.

Comprehensive system of procedures and monitoring activities ensuring accuracy and reliability of screening operations.

The percentage of screened newborns who require additional testing or follow-up based on initial screening results.

Statistically derived normal values used to interpret screening test results and determine abnormal findings.

Recommended Uniform Screening Panel, the official list of conditions recommended for newborn screening in the United Sta...

Short-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder of uncertain clinical significance.

Severe combined immunodeficiency, a group of genetic disorders causing absent or severely compromised immune function.

The systematic decision-making process that determines screening results based on analyte values, ratios, and clinical c...

The probability that a newborn screening test correctly identifies infants who have the target disorder.

Additional laboratory analysis performed on the original blood spot to reduce false positives before clinical follow-up.

The quality assessment of blood samples to determine if they meet standards for reliable analytical testing.

Standardized parameters used by laboratories to determine when dried blood spot specimens are unsuitable for screening a...

Controlled environment systems used to maintain dried blood spot integrity during shipment to screening laboratories.

Regulated process of moving collected blood spot specimens from collection sites to screening laboratories.

Molecular genetic testing in newborns to detect deletions in the SMN1 gene causing progressive muscle weakness.

A data management system used for newborn screening laboratory information management.

Laboratory technique using MS/MS technology to simultaneously screen for multiple metabolic disorders from a single bloo...

A lysosomal storage disorder caused by hexosaminidase A deficiency, screened in some populations through enzyme activity...

A pituitary hormone measured in newborn screening to detect congenital hypothyroidism.

Laboratory technique using delayed fluorescence measurement to detect specific analytes in newborn screening specimens.

A molecular test measuring T-cell receptor excision circles to screen for severe combined immunodeficiency.

T-cell receptor excision circles, DNA byproducts measured in newborn screening to assess T-cell production and detect SC...

Physiological increase in thyroid-stimulating hormone levels that occurs in newborns during the first few days of life,...

Specimen rejection category indicating the blood sample was collected outside the optimal timing window for accurate scr...