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Unlike other genetic disorders, neurofibromatosis type 2 (NF2) typically isn’t diagnosed until the late teens or early adult years. At Children’s Hospital Boston, we know that forming an accurate diagnosis as soon as symptoms present is the first step to effective treatment.
Can NF2 be diagnosed during pregnancy?
If a parent has NF2 and a known mutation, genetic testing can be performed to determine if the baby has inherited the same mutation.
Prenatal diagnosis of NF2 can be done with 65-percent accuracy through:
When is NF2 diagnosed in individuals who don’t receive prenatal testing?
The age at which a given person is diagnosed with NF2 varies depends on the individual. The average age for diagnosis is 28 years. However, more severe cases of the disorder will be detected earlier than in individuals who show milder symptoms. In familial cases of NF2, if the parental mutation is known, the child can be tested at any age.
How is a diagnosis of NF2 made?
In order to have a confirmed diagnosis of NF2, an individual must have:
Doctors may use a magnetic resource-imaging scan (MRI) to look for vestibular schwannomas or other tumors associated with NF2, especially if there is a family history of the disorder. Individuals without a family history but suspected to have NF2 are evaluated in a similar way with imaging studies and regular hearing evaluations.
If an individual meets the diagnostic criteria for NF2, the doctor might also use genetic testing to confirm the diagnosis. However, these testsoften aren’t necessary to confirm a diagnosis.
How do I know if I should be tested for NF2?
Tell your doctor if you or your child experiences hearing loss, ringing in the ears and problems with balance that begin around age 18 to 24. Since these are usually the first symptoms of NF2, your pediatrician may recommend that you schedule an evaluation with our Neurofibromatosis Program.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”