title: ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
abstract: Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document provides updated information regarding FMR1 gene mutations, including prevalence, genotype-phenotype correlation, and mutation nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene, including triplet repeat-primed and methylation-specific polymerase chain reaction. In addition to report elements, examples of laboratory reports for various genotypes are also included.
authors.affiliation: Department of Medical Genetics, Henry Ford Health System, Detroit, Michigan, USA. Kmonagh1@hfhs.org
authors.forename: Kristin G
authors.initials: KG
authors.lastname: Monaghan
authors.forename: Elaine
authors.initials: E
authors.lastname: Lyon
authors.forename: Elaine B
authors.initials: EB
authors.lastname: Spector
mesh_terms: D015139:Blotting, Southern; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000209:etiology / Q000235:genetics*; D056726:Genetic Association Studies; D005820:Genetic Testing; D005826:Genetics, Medical; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human