Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors

J Genet Couns. 2020 Oct;29(5):692-714. doi: 10.1002/jgc4.1303. Epub 2020 Jun 29.

Abstract

The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or who have received a diagnosis of NF, including NF1, NF2, and schwannomatosis. This resource represents the opinions of a multi-center working group of Certified Genetic Counselors with experience in the care of individuals with NF, providing topics to be considered for the incorporation into a clinical genetic counseling session.

Keywords: Neurofibromatosis type 1; Neurofibromatosis type 2; counseling techniques; genetic counseling; genetic counselors; genetic testing; practice guideline; schwannomatosis.

MeSH terms

  • Genetic Counseling*
  • Humans
  • Neurilemmoma / diagnosis
  • Neurilemmoma / genetics*
  • Neurofibromatoses / diagnosis
  • Neurofibromatoses / genetics*
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / genetics*
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics*
  • Societies, Medical / organization & administration*

Supplementary concepts

  • Schwannomatosis