Neurofibromatosis type 2 (NF2)

Introduction

NF2 is an autosomal dominant cancer syndrome affecting approximately 1 in 40,000 individuals and is characterized by the formation of multiple benign nervous system tumours, most commonly bilateral schwannomas of the vestibular nerve. NF2 is caused by mutations in the schwannomin/merlin tumour suppressor gene located on chromosome 22q12.2.

Referral information

Mutation screening in patients with clinically confirmed, or a differential diagnosis, of NF2. Pre-symptomatic testing of relatives of an index case with previously identified mutation or by linkage in families with suitable pedigree structure (samples from at least two affected first degree relatives).

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 POA 56 calendar days
Single mutation test POA 14 calendar days
Linkage analysis POA 56 calendar days
Prenatal test POA 3 calendar days

Test validation & quality assurance - information for users

In familial cases, this screening strategy is estimated to have a clinical sensitivity of greater than 91%. The analytical sensitivity of the NGS test is 96%. This testing procedure has been validated in-house using a cohort of previously tested NF2 patients.

Sample requirements

4ml EDTA blood sample, fresh/frozen tissue tumour tissue or 5 x 5µM unstained, uncovered, mounted sections or unmounted sections from tissue block containing tumour sample.

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 101000

Gene(s) - NF2

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