Clinical Indication ID & Name
Familial tumours of the nervous system
Test Group
Neurology
Specialties
Test code
R221.1
Test name
N/A
Target genes
NF2, SMARCB1, LZTFL1, SMARCE1, SUFU and DGCR8
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Individual +/- family history fulfils clinical criteria for Neurofibromatosis Type 2
a. Bilateral vestibular schwannomas, OR
b. Unilateral vestibular schwannoma AND ≥2 NF2 associated features (meningioma, schwannoma,
glioma, neurofibroma, posterior subcapsular lenticular opacities/cataract) OR
c. ≥ 1 of unilateral vestibular schwannoma, meningioma, schwannoma, glioma, neurofibroma, multiple
meningiomas, posterior subcapsular lenticular opacities/cataract AND ≥ 1 first / second degree
relative with a vestibular schwannoma OR
d. Multiple Meningiomas AND ≥2 NF2 associated features (schwannoma, glioma, neurofibroma,
posterior subcapsular lenticular opacities/cataract) OR
e. Unilateral Vestibular Schwannoma AND multiple meningiomas
f. Meninogioma diagnosed <20 years
g. Childhood retinal hamartoma
2. Unilateral Vestibular Schwannoma AND a non-intradermal schwannoma without other NF2-
features
3. Schwannomatosis:
a. b. Two or more non-intradermal schwannomas (at least one biopsy-confirmed) OR
One pathologically confirmed schwannoma, unilateral vestibular schwannoma, or intracranial
meningioma AND ≥1 FDR with Schwannomatosis
4. Schwannoma diagnosed <30years
5. ≥2 meningiomas
6. Any clear Cell Meningioma
Extent of testing
1. 2. 3. 4. 5. 6. Patients fulfilling criterion 1 should have NF2 testing only
Patients fulfilling criterion 2 should have testing of NF2 AND LZTR1
Patients fulfilling criterion 3 should have testing of NF2, LZTR1, SMARCB1 and DGCR8
Patients fulfilling criterion 4 should have testing of NF2, LZTR1, SMARCB1
Patients fulfilling criterion 5 should have testing of NF2, SMARCE1, SUFU
Patients fulfilling criterion 6 should have testing of SMARCE1
Note
Tumour-based testing of NF2 checking for mosaicism should be offered in the following circumstances:
1. Patients fulfilling criterion 1 in whom germline NF2 testing is uninformative
2. Patients with two or more NF2-related tumours not otherwise fulfilling criteria 1-6
3. Patients fulfilling criterion 3 in whom testing of NF2, LZTR1, SMARCB1 and DGCR8 is uninformative
NOTE: All tumours should be histologically confirmed
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Test code
R221.2
Test name
N/A
Target genes
NF2, SMARCB1, LZTFL1, SMARCE1, SUFU and DGCR8
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Individual +/- family history fulfils clinical criteria for Neurofibromatosis Type 2
a. Bilateral vestibular schwannomas, OR
b. Unilateral vestibular schwannoma AND ≥2 NF2 associated features (meningioma, schwannoma,
glioma, neurofibroma, posterior subcapsular lenticular opacities/cataract) OR
c. ≥ 1 of unilateral vestibular schwannoma, meningioma, schwannoma, glioma, neurofibroma, multiple
meningiomas, posterior subcapsular lenticular opacities/cataract AND ≥ 1 first / second degree
relative with a vestibular schwannoma OR
d. Multiple Meningiomas AND ≥2 NF2 associated features (schwannoma, glioma, neurofibroma,
posterior subcapsular lenticular opacities/cataract) OR
e. Unilateral Vestibular Schwannoma AND multiple meningiomas
f. Meninogioma diagnosed <20 years
g. Childhood retinal hamartoma
2. Unilateral Vestibular Schwannoma AND a non-intradermal schwannoma without other NF2-
features
3. Schwannomatosis:
a. b. Two or more non-intradermal schwannomas (at least one biopsy-confirmed) OR
One pathologically confirmed schwannoma, unilateral vestibular schwannoma, or intracranial
meningioma AND ≥1 FDR with Schwannomatosis
4. Schwannoma diagnosed <30years
5. ≥2 meningiomas
6. Any clear Cell Meningioma
Extent of testing
1. 2. 3. 4. 5. 6. Patients fulfilling criterion 1 should have NF2 testing only
Patients fulfilling criterion 2 should have testing of NF2 AND LZTR1
Patients fulfilling criterion 3 should have testing of NF2, LZTR1, SMARCB1 and DGCR8
Patients fulfilling criterion 4 should have testing of NF2, LZTR1, SMARCB1
Patients fulfilling criterion 5 should have testing of NF2, SMARCE1, SUFU
Patients fulfilling criterion 6 should have testing of SMARCE1
Note
Tumour-based testing of NF2 checking for mosaicism should be offered in the following circumstances:
1. Patients fulfilling criterion 1 in whom germline NF2 testing is uninformative
2. Patients with two or more NF2-related tumours not otherwise fulfilling criteria 1-6
3. Patients fulfilling criterion 3 in whom testing of NF2, LZTR1, SMARCB1 and DGCR8 is uninformative
NOTE: All tumours should be histologically confirmed
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Commissioning group
Highly Specialised
Overlapping idications
n/a
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old