Article
Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations.
Archives of pathology & laboratory medicine - 1 Jan 1994
DeMarchi J M, Beaudet A L, Caskey C T, Richards C S
Abstract excerpt
OBJECTIVE: To examine the use of partial automation for molecular analysis of cystic fibrosis and to evaluate the diagnostic experience gained. DESIGN: Twenty-four cystic fibrosis mutations, with cumulative mutation detection of 89% in North American whites and of 97% in the Ashkenazim, were test...
Topics
- Automation
- Clinical Laboratory Techniques
- Cystic Fibrosis
- DNA
- Female
- Genetic Carrier Screening
- Humans
- Incidence
- Male
- Mutation
- Pedigree
- Prenatal Diagnosis
- Universities