Diagnosis

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

Your doctor will check your skin for cafe au lait spots, which can help diagnose NF1.

If additional tests are needed to diagnose NF1, NF2 or schwannomatosis, your doctor might recommend:

• Eye exam. An eye doctor can detect Lisch nodules, cataracts and visual loss.
• Hearing and balance exams. A test that measures hearing (audiometry), a test that uses electrodes to record your eye movements (electronystagmography) and a test that measures the electrical messages that carry sound from the inner ear to the brain (brainstem auditory evoked response) can help assess hearing and balance problems in people who have 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 diagnose optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.
• Genetic tests. Tests to identify NF1 and NF2 are available and can be done in pregnancy before a baby is born. Ask your doctor about genetic counseling. Genetic tests won't always identify schwannomatosis because other, unknown genes may be involved with the disorder. However, some women choose genetic testing for SMARCB1 and LZTR1 before having children.

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 your 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.