New era of cystic fibrosis: Full mutational analysis and personalized therapy

Table 2 Comparison of classic and next generation sequencing approaches for diagnostic mutation search in cystic fibrosis.

Feature	Classic approach	NGS approach
Analytical requirements for a full characterization of the CFTR gene	Multiple technical steps and different analytical platforms	Reduced number of technical steps and single analytical platform
Data elaboration	Multiple data elaboration steps handled by the laboratory itself	Reduced number of data elaboration steps often performed by internal dedicated personnel or external structures
Throughput	Low	High
Automation	Moderate	High
Timing	Time consuming	Rapid
Cost per sample	High	Low (if a reasonably high number of samples are processed in the same run)
No. of mutations analyzed	Progressively increasing from moderate (first steps) to high (last steps)	High
Detection rate	Progressively increasing from moderate (first steps) to high (last steps)	High
Possibility to analyze other genes involved in the modulation of CF clinical manifestations	Unlikely	Realistic
Feature	Classic approach	NGS approach

NGS: Next generation sequencing; CF: Cystic fibrosis; CFTR: Cystic fibrosis transmembrane conductance regulator