Newborn screening is an essential preventive public health
function, used to identify at risk infants in the first few days
of life, so that early treatment can be implemented to prevent
mental retardation, chronic disability or death. The New Jersey
Department of Health has a long standing and effective program
that assures testing, case follow-up tracking, and the provision
of appropriate health care management of all infants detected as
presumptively at risk for one of the specific conditions in the
mandated screening panel. The State’s Newborn Screening (NBS)
Laboratory is mandated to screen for a total of fifty-four (54)
metabolic and genetic disorders. Forty-three (43) disorders, the
amino acid disorders, the fatty acid oxidation disorders, the
organic acidemias, and the urea cycle disorders, are screened
using tandem mass spectrometry. Other technology is used to
screen for nine (9) other disorders, specifically biotinidase
deficiency, congenital adrenal hyperplasia, congenital
hypothyroidism, cystic f