NF1 Sequencing and Deletion/Duplication

Use

This test is used to identify individuals with autosomal dominant neurofibromatosis type 1 (NF1) syndrome by detecting single‑nucleotide variants, deletions, and duplications in the NF1 gene, which encodes the neurofibromin protein. It supports diagnosis in individuals who meet clinical criteria or in young children with only partial features, and can confirm familial mutations when present.