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The purpose of this document is to provide health care professionals with guidelines for testing, care coordination, identification of psychosocial issues, and to facilitate a better understanding of disease treatment expert recommendations for patients with 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 representatives\/founders of the two United States based Fabry disease patient advocacy groups who are themselves affected by Fabry disease. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English\u2010language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing, interpretation of results, psychosocial considerations, and references to professional and patient resources.<\/jats:p>","DOI":"10.1007\/s10897-013-9613-3","type":"journal-article","created":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T01:31:34Z","timestamp":1373938294000},"page":"555-564","source":"Crossref","is-referenced-by-count":76,"title":["Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors"],"prefix":"10.1002","volume":"22","author":[{"given":"Dawn A.","family":"Laney","sequence":"first","affiliation":[{"name":"Medical Genetics Emory University 2165 North Decatur Road Decatur GA 30033 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin L.","family":"Bennett","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Washington Medical Center Medical Genetics Box 357720 Seattle WA 98195\u20107720 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Clarke","sequence":"additional","affiliation":[{"name":"Massachusetts General Hospital 185 Cambridge ST, Simches 5236 Boston MA 02114 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Fox","sequence":"additional","affiliation":[{"name":"Sera Prognostics 2749 East Parleys Way, Suite 200 Salt Lake City UT 84109 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Cincinnati Children's Hospital Medical Center Cincinnati OH 84109 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack","family":"Johnson","sequence":"additional","affiliation":[{"name":"Fabry Support and Information Group PO Box 510, 108 NE 2nd St. Concordia MO 64020 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"O'Rourke","sequence":"additional","affiliation":[{"name":"Genzyme Corporation Genzyme 500 Kendall Street Cambridge MA 02142 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Sims","sequence":"additional","affiliation":[{"name":"Massachusetts General Hospital\/Harvard Medical School 185 Cambridge St., Simches 5236 Boston MA 02114 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald","family":"Walter","sequence":"additional","affiliation":[{"name":"National Fabry Disease Foundation 4301 Connecticut Ave. N.W., Suite 404 Washington DC 20008 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI9711"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2009.03721.x"},{"key":"e_1_2_12_4_1","first-page":"227","article-title":"22 novel mutations in the alpha\u2010galactosidase A gene and genotype\/phenotype correlations including mild hemizygotes and severely affected heterozygotes","volume":"48","author":"Ashton\u2010Prolla P.","year":"2000","journal-title":"Journal of Investigative Medicine"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470568248"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-90-481-9033-1_20"},{"key":"e_1_2_12_8_1","first-page":"745","article-title":"Recommendations for standardized pedigree nomenclature","volume":"56","author":"Bennett R. 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