**4. Conclusion**

New issues are emerging from the use of NGS technology in CF molecular diagnosis. On one hand, NGS approaches offer new possibilities by multiplexing samples and provide a wider coverage of the *CFTR* locus including deep intronic regions. NGS assay design can also include additional modifiers genes [31]. On the other hand, molecular diagnoses in emergency contexts challenge the possibility of sample multiplexing, and the increased number of VUCS will require complex functional analyses. However, as tools described above are constantly improving, the knowledge about *CFTR* variations is rapidly expanding, allowing geneticists and clinicians to provide patients with high quality information and adequate genetic counselling. Finally, the functional characterization of CFTR variations will provide rationale for a personalised medicine strategy driven by patients' genotype in the very near future.
