In 1965, New York State Public Health Law 2500-a was enacted, mandating the screening of all newborns for phenylketonuria. The law was amended in 1974 to include testing for six other conditions, one of which is homozygous sickle cell disease. Originally, all screening was done in four semiautonomous laboratories located in Erie County (Buffalo), Onondaga County (Syracuse), New York City, and Albany County (Albany). These laboratories were set up to receive, test, and report results of all specimens in their respective regions of the state. Between 1981 and 1985, all screening was centralized at the Wadsworth Laboratories of the New York State Health Department in Albany, where in 1986 the newborn screening laboratory tested more than 288,000 specimens. Hemoglobin is screened with the two-tier procedure of Garrick et al: alkaline electrophoresis on cellulose acetate followed by acid electrophoresis on citrate agar.
METHODS/PROCEDURES
The average daily volume of the New York State Newborn Screening Program is 1,200 specimens, but the number of specimens can range from 800 to 3,000 per day. Specimens are collected from infant blood obtained by heel stick on Schleicher and Schuell 903 filter paper. Medical personnel are advised to collect the specimen when the infant is three to five days of age and before any planned transfusion is administered. The specimens are air dried and mailed to the laboratory within 24 hours of collection.
When received in the laboratory accessioning unit, the specimens are examined to determine their suitability for testing. Specimens are screened for sickle hemoglobin only if there is sufficient blood on the filter paper and the date of collection to date of laboratory receipt is less than 14 day.
Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns’ dried blood-spot specimens for six amino acids by ion-exchange chromatography