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

R222

Neurofibromatosis type 1

Test Group

Neurology

Specialties

Clinical Genetics Dermatology Neurology Paediatrics

Test code

R222.1

Test name

N/A

Target genes

NF1; SPRED1

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical diagnosis of NF1, as defined below, AND molecular diagnosis is required for management of the proband or for reproductive planning

Diagnosis requires two of:
1. At least 6 café au lait macules (at least 0.5cm in a child and 1.5cm in an adult)
2. At least 2 subcutaneous or cutaneous neurofibromas
3. Plexiform neurofibroma
4. Optic glioma
5. At least 2 Lisch nodules
6. Bony dysplasia (sphenoid wing, long bone bowing, pseudarthrosis)
7. Family history of NF1

Test code

R222.2

Test name

N/A

Target genes

NF1; SPRED1

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical diagnosis of NF1, as defined below, AND molecular diagnosis is required for management of the proband or for reproductive planning

Diagnosis requires two of:
1. At least 6 café au lait macules (at least 0.5cm in a child and 1.5cm in an adult)
2. At least 2 subcutaneous or cutaneous neurofibromas
3. Plexiform neurofibroma
4. Optic glioma
5. At least 2 Lisch nodules
6. Bony dysplasia (sphenoid wing, long bone bowing, pseudarthrosis)
7. Family history of NF1

Commissioning group

Specialised

Overlapping idications

• R236 Pigmentary skin disorders test should be used where clinical features are atypical and a broader range of genes is potentially causative • R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations

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