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Genetic Testing for Neurofibromatosis type 1 and 2

The gene for NF1 was identified in 1990 and shortly thereafter, in 1993, the gene causing NF2 was discovered. Typically, when a gene is found, a diagnostic test soon follows. This has not been the case, though, with neurofibromatosis (especially type 1), despite the fact that we have learned a lot in the past decade about the basic mechanisms responsible for the tumors. Recently, however, major challenges have been tackled so that a diagnostic genetic test for NF1 is now available for those patients that need it.