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...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Exons
- Gene Deletion
- Humans
- Infant, Newborn
- Membrane Proteins
- Mutation
- Neonatal Screening
- Pennsylvania
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Trypsinogen