Article
Newborn screening for cystic fibrosis: techniques and strategies.
Journal of inherited metabolic disease - 1 Aug 2007
Wilcken Bridget
Abstract excerpt
Newborn screening for cystic fibrosis has been carried out for over 25 years, and clinical and cost benefits have been documented. There is still much variation in the methods and strategies adopted. All current screening programmes use a measurement of immunoreactive trypsin as a primary screening test, and in most, a second tier test involves analysing DNA mutations. The choice of DNA mutations depends on the...
Topics
- Cystic Fibrosis
- DNA
- DNA Mutational Analysis
- Electrophoresis, Agar Gel
- Genetic Testing
- Humans
- Infant, Newborn
- Mutation
- Neonatal Screening
- Trypsin
