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(s) 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 is uninformative, the value of testing using another methodology (e.g. MLPA, Sanger sequencing) should be considered.
If germline gene testing is uninformative, testing of two or more different tumour samples may be helpful in identifying possible germline mosaicism.