The diagnosis of NF1 mutations typically involves a combination of clinical evaluation and genetic testing. Clinicians look for characteristic signs of NF1, such as café-au-lait spots, neurofibromas, and Lisch nodules in the eyes. Genetic testing can confirm the diagnosis by identifying mutations in the NF1 gene. Techniques such as next-generation sequencing and multiplex ligation-dependent probe amplification (MLPA) are commonly used for this purpose.
