Molecular diagnosis of cystic fibrosis

Abstract

A review of the current molecular diagnosis of cystic fibrosis including an introduction to cystic fibrosis, the gene function, the phenotypic variation, who should be screened for which mutation, newborn and couple screening, quality assurance, phenotype–genotype correlation, methods and method limitations, options, statements, recommendations, useful websites and treatments.

• cystic fibrosis
• CF carrier detection
• molecular diagnosis
• mutation detection