Current and future molecular approaches in the diagnosis of cystic fibrosis.

Abstract excerpt

INTRODUCTION: Cystic Fibrosis is among the first diseases to have general population genetic screening tests and one of the most common indications of prenatal and preimplantation genetic diagnosis for single gene disorders. During the past twenty years, thanks to the evolution of diagnostic techniques, our knowledge of CFTR genetics and pathophysiological mechanisms involved in cystic fibrosis has significantly...

Topics

• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Genetic Testing
• Humans
• Mutation
• Prenatal Diagnosis
• Sequence Analysis, DNA