Schwannomatosis is a tumour predisposition syndrome showing autosomal dominant inheritance. There is clinical overlap between schwannomatosis and NF2. Diagnostic criteria for schwannomatosis include 2 or more pathologically proved schwannomas and lack of radiographic evidence of vestibular nerve tumor at age more than 18 years (Jacoby et al 1997). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age.
Lymphocyte DNA from individuals satisfying clinical diagnostic criteria for Schwannomatosis (e.g. 2 or more schwannomas no vestibular schwannomas) where NF2 mutation screening has proved negative. All schwannomatosis referrals should be accompanied by a completed clinical questionnaire to assist with the audit of the service (available from www.mangen.org.uk). Lymphocyte DNA from individuals diagnosed with Atypical Familial Rhabdoid Tumour.
Price & reporting times
NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices
|Test||Price (£ ex VAT)||TRT *|
|Mutation scanning||POA||56 calendar days|
|Single mutation testing||POA||14 calendar days|
Test validation & quality assurance - information for users
Germline SMARCB1 mutations are detected in approximately 45% of clinically confirmed schwannomatosis affected familial cases and approximately 90% of cases with atypical familial rhabdoid tumour. LZTR1 mutations are found in approximately 20% of familial schwannomatosis cases. The analytical sensitivity of the NGS screen is 96% following in-house validation.
4ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 162091
Gene(s) - SMARCB1, LZTR1