- Proband with a clinically confirmed diagnosis of Neurofibromatosis type 1,OR
- Proband with multiple café-au-lait patches but no non-pigmentary features
Unaffected individuals should not be recruited in this disorder. Recruitment should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.
Where the NF1 gene has not been tested before recruitment, participants should be recruited initially as singletons. In families where analysis as a singleton does not lead to identification of the underlying causative mutations, recruitment of additional affected family members is encouraged.
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:
- In case A above (clinically confirmed diagnosis of NF1) prior testing as below is strongly recommended to allow appropriate management.
- In case B above (no non-pigmentary features) testing of the following genes should be considered but is not required prior to recruitment:
These requirements will be kept under continual review during the main programme and may be subject to change.