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

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 case series of children with clinical presentations suggestive of cystic fibrosis, ambiguous sweat test results, and previous “negative” genetic analysis results. More precise and advanced genetic testing revealed that all three patients carried two CF-causing mutations. In cases where there is high clinical suspicion, despite initial results indicating a negative outcome, we recommend the use of MLPA analysis for the detection of large deletions and insertions that cannot be detected by standard sequencing methods.