Clinical Indication ID & Name
Neurofibromatosis type 1
Test Group
Neurology
Specialties
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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
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 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.