Neurofibromatosis type 1 (NF1): How is it diagnosed?

PDF download is not available for Arabic and Urdu languages at this time. Please use the browser print function instead

Learn about clinical and genetic testing, two ways that doctors diagnose Neurofibromatosis Type 1 (NF1). Each of these methods has advantages and limits.

Key points

  • There are two ways your child's doctor can diagnose NF1: clinical diagnosis and genetic testing.
  • Clinical diagnosis means the doctor looks for symptoms of NF1 on the child's body.
  • In genetic testing, the doctor looks for a change (mutation) in the child's NF1 gene.
  • There are advantages and limitations to both methods.
Last updated: March 10th 2010