Diagnosis of NF1 in neonates primarily involves a thorough clinical evaluation. Genetic testing can confirm the diagnosis by identifying mutations in the NF1 gene. Additional diagnostic criteria include:
Six or more café-au-lait spots larger than 5 mm in diameter in prepubertal individuals. Two or more neurofibromas or one plexiform neurofibroma. Osseous lesions such as sphenoid dysplasia or thinning of long bone cortex.
