Your doctor will start with a physical examination and review of your medical history and family medical history.

NF1 often can be diagnosed based on physical examination. Your doctor may use a special lamp to check your skin for cafe au lait spots. A physical examination and family history are also important for a diagnosis of NF2.

Your doctor also might recommend:

  • Eye exam. An eye doctor can detect Lisch nodules and cataracts.
  • Ear exam. Tests such as audiometry, electronystagmography and brainstem auditory evoked response can help assess hearing and balance problems in people with NF2.
  • Imaging tests. X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to help identify optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.
  • Genetic tests. Tests to identify NF1and NF2 are available and can be done prenatally. Ask your doctor about genetic counseling. Genetic tests for schwannomatosis are limited.

For a diagnosis of NF1, you must have at least two signs of the condition. If your child has only one sign and no family history of NF1, your doctor will likely monitor the child for the development of any additional signs. A diagnosis of NF1 is usually made by age 4.

Genetic testing may help establish the diagnosis.