Legius syndrome is an autosomal dominant disorder that shows some similarities to neurofibromatosis type I (NF1; 162200), which is caused by mutation in the neurofibromin gene (613113); however, Legius syndrome is less severe. Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. Legius syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumour predisposition. ≈8% of patients with café au lait spots only have mutations in SPRED1.
The service is NCG funded and is available for patients satisfying clinical criteria of segmental NF1. Samples will only be accepted after clinical review by Dr Emma Burkitt-Wright or Prof Evans of the Dept of Medical Genetics, St Mary’s Hospital Manchester and a proforma must be completed.
Price & reporting times
This service is funded by the National Commissioning Group for NHS referrals for patients from England. In other cases please contact the lab for prices.
|Test||Price (£ ex VAT)||TRT *|
|Mutation scanning (per gene)||POA||40 wd|
|Single mutation test||POA||10 wd|
Test validation & quality assurance - information for users
≈8% of patients with café au lait spots only have mutations in SPRED1. The analytical sensitivity for non-mosaic sequence mutations is >99%.
Please see our referral guidelines for more information.
OMIM Number(s) - 611431
Gene(s) - SPRED1 (*609291)