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

Kristin G. Monaghan PhD,

Elaine Lyon PhD

& Elaine B. Spector PhD

Affiliations

Corresponding author

Genetics in Medicine

(2013)

doi:10.1038/gim.2013.61

Received: 04 April 2013
Accepted: 04 April 2013
Published online: 13 June 2013

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.
Genet Med advance online publication 13 June 2013