Genetic testing for neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (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 at least one of the following criteria is met:
A close relative (ie, first-, second-, or third-degree relative) has a known NF1 or NF2 variant; or
A close relative has been diagnosed with neurofibromatosis but whose genetic status is unavailable.
Genetic testing for neurofibromatosis for all other situations not meeting the criteria outlined above is considered investigational.
