Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Neurofibromatosis type 2

Información en español

Other Names for this Disease
  • Acoustic neurinoma bilateral
  • Acoustic schwannomas bilateral
  • Bilateral acoustic neurofibromatosis
  • Familial acoustic neurinoma
  • Familial acoustic neuroma
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is neurofibromatosis type 2 diagnosed?

The diagnosis of neurofibromatosis type 2 (NF2) is usually based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the NF2 gene is available; however, this testing may not be informative in all people affected by NF2, particularly those who are mosaic for the condition.[1]

GeneReviews' Web site offers more specific information about the diagnostic criteria of NF2 and genetic testing for the condition. Please click on the link to access this resource.
Last updated: 7/21/2015

References
  1. D Gareth Evans, MD, FRCP. Neurofibromatosis 2. GeneReviews. August 2011; http://www.ncbi.nlm.nih.gov/books/NBK1201/#nf2.Clinical_Description.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Acoustic neurinoma bilateral
  • Acoustic schwannomas bilateral
  • Bilateral acoustic neurofibromatosis
  • Familial acoustic neurinoma
  • Familial acoustic neuroma
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.