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To diagnose your condition, your doctor will review your symptoms, medical history and your family history. Depending on the type of neurofibromatosis suspected, your doctor may conduct or order several tests, which may include:
A physical examination is also important for a neurofibromatosis 2 (NF2) diagnosis. A family history of NF1 or NF2 can help confirm either diagnosis.
Imaging tests. Imaging tests, such as X-rays, CT scans and MRIs, aren't always required, but they can help identify bone abnormalities, deep tumors in the brain or spinal cord, and very small tumors. An MRI can also help identify optic pathway gliomas in your eye.
Imaging tests may also be particularly helpful in monitoring NF2 and schwannomatosis.
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