This test analyses the NF1 and SPRED1 genes for germline variants associated with Neurofibromatosis type 1 (NF1) and Legius syndrome. NF1 is characterised by café-au-lait macules, axillary or inguinal freckling, neurofibromas and, in some individuals, plexiform neurofibromas, optic pathway gliomas, skeletal abnormalities and other neurological or vascular complications. Legius syndrome, caused by SPRED1 variants, can present with café-au-lait macules and intertriginous freckling similar to NF1, but typically lacks the neurofibromas, plexiform neurofibromas and other major tumour manifestations of NF1. Developmental or learning difficulties and macrocephaly may occur in both conditions.
Genetic testing can help distinguish Legius syndrome from NF1, particularly in children with pigmentary features who do not yet have other diagnostic features of NF1. Identification of a pathogenic variant may confirm the diagnosis, inform clinical management and enable genetic testing of at-risk family members.
MPST
Neurofibromatosis Type 1
NF1
Legius syndrome
SPRED1