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Article

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2015

Lyon Elaine, Schrijver Iris, Weck Karen E, Ferreira-Gonzalez Andrea, Richards C Sue, Palomaki Glenn E

Abstract excerpt

BACKGROUND: Molecular testing for cystic fibrosis mutations is widespread and routine in reproductive decision making and diagnosis. Our objective was to assess the level of performance of laboratories for this test. METHODS: The College of American Pathologists administers external proficiency testing with multiple DNA samples distributed biannually. RESULTS are analyzed, reviewed, and graded by the joint...

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PMID: 25077647
DOI: 10.1038/gim.2014.93

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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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