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

Genetics in Medicine

Volumn 14, Issue 3, 2012, Pages 306-312

  Weck, Karen E ^a   Zehnbauer, Barbara ^b   Datto, Michael ^c   Schrijver, Iris ^d  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

diagnostic; fragile X; laboratories; performance; proficiency testing

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ALLELE; ARTICLE; DIAGNOSTIC ACCURACY; FALSE POSITIVE RESULT; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GOOD LABORATORY PRACTICE; HUMAN; LABORATORY TEST; MALE; MOSAICISM; PERFORMANCE MEASUREMENT SYSTEM; POLYMERASE CHAIN REACTION; PREMUTATION; SENSITIVITY AND SPECIFICITY; TRINUCLEOTIDE REPEAT;

EID: 84857862311     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.11     Document Type: Article

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