It’s important to know that an accurate diagnosis of NF2 can only be made by a physician with expertise in the diagnosis and treatment of neurofibromatosis. Specific diagnostic criteria have been established based on a consensus of experts in the field.

A confirmed diagnosis of NF2 can be made if an individual has:

• Bilateral vestibular schwannomas (also called acoustic neuromas)

A person is suspected of having NF2 under the following conditions:

• Family history of NF2 (first degree family relative) and
• Unilateral vestibular schwannoma or one of the following types of tumors: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacity, juvenile cortical cataract

In addition, people with the following clinical features should be evaluated for NF2:

• Unilateral vestibular schwannoma in a person less than 30 years old and at least one of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities, juvenile cortical cataract
• Multiple meningiomas (two or more) and unilateral vestibular schwannoma in a person less than 30 years old or one of the following: glioma, schwannoma, juvenile posterior subcapsular lenticular opacities, juvenile cortical cataract

In cases where a diagnosis cannot be made based on the presence of physical symptoms, genetic testing for the NF2 gene mutation is currently available and may be appropriate for some families in order to confirm a diagnosis of NF2. NF2 testing can also be used as a basis for genetic counseling. A genetic counselor can provide guidance and information regarding the suitability of genetic testing in these cases.