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Article

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2012

Weck Karen E, Zehnbauer Barbara, Datto Michael, Schrijver Iris

Abstract excerpt

PURPOSE: The College of American Pathologists offers biannual proficiency testing for molecular analysis of fragile X syndrome. The purpose of this study was to analyze laboratory performance on the fragile X proficiency surveys from 2001 to 2009. METHODS: Individual laboratory responses were analyzed for accuracy of genotype determination (normal, gray zone, premutation, or full mutation) and size analysis of...

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Source

Identifiers

PMID: 22241100
DOI: 10.1038/gim.2011.11

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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