Genetic Testing for Neurofibromatosis
Genetic testing for NF1 or NF2 pathogenic variants may be considered medically necessary when a diagnosis of neurofibromatosis is clinically suspected due to signs of disease but a definitive diagnosis cannot be made without genetic testing. Genetic testing for NF1 or NF2 pathogenic variants in at-risk relatives with no signs of disease may be considered medically necessary when a definitive diagnosis cannot be made without genetic testing and a close relative (first-, second- or third-degree) has a known NF1 or NF2 variant or has been diagnosed with neurofibromatosis but whose genetic status is unavailable. Genetic testing for neurofibromatosis in all other situations is considered investigational.