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
|
---|---|
Published in |
Genetics in Medicine, June 2013
|
DOI | 10.1038/gim.2013.61 |
Pubmed ID | |
Authors |
Kristin G. Monaghan, Elaine Lyon, Elaine B. Spector |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 50% |
United States | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Croatia | 1 | <1% |
Italy | 1 | <1% |
Unknown | 186 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 47 | 25% |
Researcher | 31 | 16% |
Student > Ph. D. Student | 22 | 12% |
Other | 21 | 11% |
Student > Bachelor | 14 | 7% |
Other | 21 | 11% |
Unknown | 32 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 62 | 33% |
Medicine and Dentistry | 47 | 25% |
Agricultural and Biological Sciences | 20 | 11% |
Psychology | 4 | 2% |
Nursing and Health Professions | 4 | 2% |
Other | 12 | 6% |
Unknown | 39 | 21% |