Atypical Neurofibromatosis Type I

Introduction

Neurofibromatosis is an autosomal dominant tumour predisposition syndrome characterized by café au lait spots and fibromatous tumors of the skin. A subset of patients present with NF1 like symptoms which may be due to segmental NF1 mosaicism or to mutations in the SPRED1 gene. ≈8% of patients with café au lait spots only have mutations in SPRED1.

Referral information

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 Burkitt-Wright or Prof Evans of the Dept of Medical Genetics, St Mary’s Hospital Manchester and a clinical proforma must be completed to be sent into the lab upon referral.

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	56 cd
Single mutation test	POA	14 cd

Test validation & quality assurance - information for users

>90% of NF1 point mutations are detected by this strategy in non-mosaic NF1 affected individuals. In 12% of samples with definite NF1 there is a splicing variant not predictable from DNA testing. The analytical sensitivity for non-mosaic sequence mutations is >99%.

Sample requirements

Minimum 8ml EDTA blood sample.

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 162200

Gene(s) - NF1 (*613113)