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

Genet Med. 2013 Jul;15(7):575-86. doi: 10.1038/gim.2013.61. Epub 2013 Jun 13.


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.

Publication types

  • Guideline

MeSH terms

  • Blotting, Southern
  • Female
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / etiology
  • Fragile X Syndrome / genetics*
  • Genetic Association Studies
  • Genetic Testing*
  • Genetics, Medical
  • Humans
  • Mutation
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis


  • FMR1 protein, human
  • Fragile X Mental Retardation Protein