Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Neurofibromatosis type 1

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form