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Order or find a test

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 related schwannomatosis
a. Bilateral vestibular schwannomas, OR
b. Either 2 Major OR one Major and two Minor criteria
Major Criteria
i. Unilateral vestibular schwannoma
ii Parent or child with NF2 related schwannomatosis
iii Two or more meningioma
Minor Criteria (can count more than one of a type e.g. 2 schwannoma count as two minor criteria)
I Ependymoma
Ii Meningioma
Iii Schwannoma
Minor criteria (can count only once)
I Juvenile subcapsular or cortical cataract
Ii Retinal hamartoma (any age)
Iii Epiretinal membrane <40 2. Schwannoma: a. Schwannoma diagnosed <30years b. Unilateral vestibular schwannoma and non-intradermal schwannoma without other features of NF2- related schwannomatosis c. . Two or more non-intradermal schwannomas (at least one biopsy-confirmed) d. . One pathologically confirmed schwannoma AND, unilateral vestibular schwannoma, OR intracranial meningioma OR ≥1 FDR with Schwannomatosis 3. Multiple or young onset meningioma a. . Meningioma diagnosed < 20 years b. . Any clear Cell Meningioma c. 2 meningioma <50 years or >2 any age
d. Meningioma AND one or more pathologically confirmed schwannoma

4. Other indications
a. Childhood retinal hamartoma

Note
Tumour-based testing checking for mosaicism will be required in certain circumstances. Please refer to relevant guidance available on the UK Cancer Genetics Group website.

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 related schwannomatosis
a. Bilateral vestibular schwannomas, OR
b. Either 2 Major OR one Major and two Minor criteria
Major Criteria
i. Unilateral vestibular schwannoma
ii Parent or child with NF2 related schwannomatosis
iii Two or more meningioma
Minor Criteria (can count more than one of a type e.g. 2 schwannoma count as two minor criteria)
I Ependymoma
Ii Meningioma
Iii Schwannoma
Minor criteria (can count only once)
I Juvenile subcapsular or cortical cataract
Ii Retinal hamartoma (any age)
Iii Epiretinal membrane <40 2. Schwannoma: a. Schwannoma diagnosed <30years b. Unilateral vestibular schwannoma and non-intradermal schwannoma without other features of NF2- related schwannomatosis c. . Two or more non-intradermal schwannomas (at least one biopsy-confirmed) d. . One pathologically confirmed schwannoma AND, unilateral vestibular schwannoma, OR intracranial meningioma OR ≥1 FDR with Schwannomatosis 3. Multiple or young onset meningioma a. . Meningioma diagnosed < 20 years b. . Any clear Cell Meningioma c. 2 meningioma <50 years or >2 any age
d. Meningioma AND one or more pathologically confirmed schwannoma

4. Other indications
a. Childhood retinal hamartoma

Note
Tumour-based testing checking for mosaicism will be required in certain circumstances. Please refer to relevant guidance available on the UK Cancer Genetics Group website.

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

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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.