The role of improved molecular genetic testing in the diagnosis of cystic fibrosis - a case series.

Abstract excerpt

Cystic fibrosis (CF) is diagnosed through a combination of clinical symptoms, a sweat test, and genetic analysis. Over the last five years, significant advances in cystic fibrosis treatment have been driven by a better understanding of the disease’s genetic basis. This has enabled the development of more sophisticated genetic tests, allowing for more precise treatment for each individual patient. We present a...

Topics

• Female
• Humans
• Male
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Genetic Testing