The diagnosis of NF1 is usually based on clinical diagnostic criteria.r
NF1 genetic testing could be considered in the following circumstances:
- Individuals who fulfil clinical criteria for NF1 and are considering prenatal or preimplantation genetic diagnosis
- Children who do not yet meet clinical criteria for NF1 and a genetic diagnosis is considered important to inform management decisions
- Adults who do not meet clinical criteria for NF1 and an atypical phenotype is suspected (e.g. spinal NF1)
- Where a known pathogenic mutation is identified in a relative
Genetic testing does not alter the care of individuals meeting the clinical criteria for this genetic syndrome. It may be useful in confirming the diagnosis in those not meeting the clinical criteria.