Layman summary with societal impact The revised criteria for diagnosing patients with NF1 emphasize the importance of genetic variant detection. This research focuses on optimizing current techniques to efficiently and precisely identify variants in potential NF1 patients, which could be a very helpful tool in diagnosis. The ability to detect these variants can lead to an earlier diagnosis compared to phenotypically based criteria, potentially being life-changing. This advancement could significantly impact medical geneticists and doctors by easing and speeding up the diagnosing process. Specifically, it presents an opportunity for the CMGG to continually adapt their methods to the evolving field of genetics, both in knowledge and technical possibilities. Most importantly, patients could benefit from earlier diagnoses, allowing for treatment and follow-up to begin at a younger age. Additionally, expanding genetic techniques and understanding the genetic landscape of NF1 could open new areas of research, such as personalised medicine. However, it must be noted that this research is far from complete. Several other potential techniques should be considered and compared to identify the one that can make the largest contribution to the specific challenges faced by (potential) NF1 patients.