Neurofibromatosis type 1 (NF1): Genetic testing

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Neurofibromatosis type 1 (NF1) is a skin condition that causes growths on nerves. Find out what NF1 genetic testing is, what the test results mean and why to consider testing for it.

Key points

  • In genetic testing, the laboratory looks for a mutation (change) in the patient's NF1 gene from a blood sample.
  • Genetic testing can help make an early diagnosis of NF1.
  • A genetic counsellor can help you decide if genetic testing may benefit you or your family.
Last updated: March 10th 2010