Diagnosis of Neurofibromatoses






Neurofibromatosis Type 1 (NF1)

NF1 is usually diagnosed in adults and older children by checking for typical symptoms. It can also be diagnosed in babies who show symptoms from birth, though a firm diagnosis in early childhood is not always possible due to the gradual development of some symptoms. If NF1 is suspected, further tests such as scans, blood tests, or a biopsy may be recommended to assess for other associated symptoms or conditions. Genetic testing can identify the faulty NF1 gene, though the test is not completely reliable, as around 5% of children who test negative for the gene still develop NF1.

Neurofibromatosis Type 2 (NF2)

NF2 is typically diagnosed in adults and older children by examining symptoms. Diagnosis in babies is possible if symptoms are present from birth, but a firm diagnosis before age 5 is often challenging due to the gradual onset of symptoms. Further tests, such as scans, hearing tests, sight tests, or blood tests, may be recommended. Genetic testing can identify the faulty NF2 gene, though it is not completely reliable and may not detect all NF2 cases.


Diagnosis of schwannomatosis involves imaging studies such as MRI scans to detect tumors. Genetic testing for mutations in the SMARCB1 and LZTR1 genes can aid diagnosis. Given the complexity and variability of the condition, a thorough clinical evaluation and family history are essential.

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