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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R221

Familial tumours of the nervous system

Test Group

Neurology

Specialties

Clinical Genetics

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

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

2. Unilateral Vestibular Schwannoma AND a non-intradermal schwannoma without other NF2-features
3. Schwannomatosis:
a. Two or more non-intradermal schwannomas (at least one biopsy-confirmed) OR
b. 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. Patients fulfilling criterion 1 should have NF2 testing only 2. Patients fulfilling criterion 2 should have testing of NF2 AND LZTR1 3. Patients fulfilling criterion 3 should have testing of NF2, LZTR1, SMARCB1 and DGCR8 4. Patients fulfilling criterion 4 should have testing of NF2, LZTR1, SMARCB1 5. Patients fulfilling criterion 5 should have testing of NF2, SMARCE1, SUFU 6. 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

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

2. Unilateral Vestibular Schwannoma AND a non-intradermal schwannoma without other NF2-features
3. Schwannomatosis:
a. Two or more non-intradermal schwannomas (at least one biopsy-confirmed) OR
b. 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. Patients fulfilling criterion 1 should have NF2 testing only 2. Patients fulfilling criterion 2 should have testing of NF2 AND LZTR1 3. Patients fulfilling criterion 3 should have testing of NF2, LZTR1, SMARCB1 and DGCR8 4. Patients fulfilling criterion 4 should have testing of NF2, LZTR1, SMARCB1 5. Patients fulfilling criterion 5 should have testing of NF2, SMARCE1, SUFU 6. 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

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

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

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