Use

The NF1 Panel from GeneDx is intended to aid in the diagnosis of Neurofibromatosis Type 1, a clinically heterogeneous condition characterized by café-au-lait macules, axillary or inguinal freckling, cutaneous neurofibromas, Lisch nodules, plexiform neurofibromas, optic pathway gliomas, skeletal abnormalities, vasculopathy, and learning or behavioral impairment in at least half of affected individuals. It provides comprehensive molecular evaluation by detecting single-nucleotide variants, small indels, and copy-number variants in both NF1 and SPRED1, the genes implicated in NF1 and Legius syndrome, respectively, improving diagnostic accuracy especially in individuals with overlapping phenotypes.