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:
How Do I Know if My Child Has NF-1?Children may have only a few signs of NF-1 and develop other problems when they are older. A person with NF-1 has at least two of the following features:
- Six or more brown oval or circular spots on the skin, called café-au-lait spots
- Two or more benign skin tumors, called neurofibromas, or one diffuse tumor of the soft tissue or nerves, called plexiform neurofibroma
- Freckles under the arm or in the groin region
- A tumor of the nerve to the eye, called an optic glioma
- Two or more spots on the iris, called Lisch nodules
- A problem of one of the bones, such as bowing of a leg with or without a fracture
- A parent, brother, sister or child with NF-1
How Do I Know if My Child Has NF-2?
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:
- A vestibular schwannoma
- Benign tumors in the brain or along the spinal cord
- A cataract at a young age