How is NF1 diagnosed?

Neurofibromatosis type 1 (NF1) is primarily diagnosed through clinical evaluation based on established criteria, which include the presence of specific features such as café-au-lait spots, neurofibromas, freckling in the armpits or groin, and optic gliomas. Genetic testing can confirm the diagnosis by identifying mutations in the NF1 gene, but it is not always necessary for diagnosis. A healthcare provider typically assesses the patient's family history and physical symptoms to make a conclusive diagnosis.