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Clinical genetic testing can confirm the presence of a mutation in the neurofibromatosis type 1 (NF1) gene. Prenatal testing for NF1 mutations is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for neurofibromatosis type 2 (NF2) mutations is sometimes available but is accurate only in about 65 percent of those individuals tested.

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Q: Can a prenatal test detect neurofibromatosis?
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