A range of testing methodologies are needed to identify pathogenic changes in the NF1 gene including:
- Sequencing (genomic DNA +/- cDNA)
- Copy number analysis (e.g. MLPA)
- Chromosomal microarray analysis: if whole NF1 gene deletion or microdeletion suspected
Information about DNA tests and testing laboratories is available from:
If a decision is made to test this gene as part of a cancer gene panel, care should be taken to select a panel where the individual genes tested have both clinical validity and clinical utility.
If this gene is tested using genomic sequencing ("next generation sequencing" or NGS), and testing has not identified a pathogenic variant, the value of testing using another methodology (e.g. MLPA, Sanger sequencing) should be considered.
If genetic testing in DNA from peripheral blood is uninformative, testing of two or more different tumour samples may be indicated to assess for mosaicism.