Article
Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity.
Biochemical medicine and metabolic biology - 1 Apr 1993
Spence W C, Paulus-Thomas J, Orenstein D M, Naylor E W
Abstract excerpt
Newborn screening for cystic fibrosis (CF) has been carried out on approximately 106,000 neonates in western Pennsylvania since 1987 using the immunoreactive trypsinogen (IRT) assay on dried filter paper blood specimens (DBS). Molecular analysis utilizing a duplicate DBS from the same sample was implemented in November 1989 for newborns having elevated IRT levels. DNA is amplified directly from the DBS and the...
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