Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

J Genet Couns. 2002 Apr;11(2):121-46. doi: 10.1023/a:1014545521753.


The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

MeSH terms

  • Adult
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics*
  • Female
  • Genetic Counseling / standards*
  • Genetic Testing / standards
  • Heterozygote
  • Humans
  • Minors
  • Patient Advocacy
  • Prenatal Diagnosis