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There is currently no simple blood test for NF. However, because the genes causing NF-1 and NF-2 have been identified, a simple blood test for NF should be available in the future. Until that time, a doctor who is familiar with NF should make the diagnosis of NF.
Knowledge of NF is the best tool you and your doctors have in treating the disorder. A good first step is making sure you understand how a diagnosis of NF-1 or NF-2 is made. To help decide whether someone has NF-1 or NF-2, the National Institute of Health offers the following guidelines:
Signs of NF-2 are usually not present until people are teenagers or older. A person with NF-2 will have either tumors on both sides of the head of the nerves for hearing and balance, called vestibular schwannomas or a mother, father, brother, or sister with NF-2 and one of the following: