title: College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis.
abstract: OBJECTIVE
  To evaluate the feasibility of administering a newly established proficiency test offered through the College of American Pathologists and the American College of Medical Genetics for genomic copy number assessment by microarray analysis, and to determine the reproducibility and concordance among laboratory results from this test.
  
  
  METHODS
  Surveys were designed through the Cytogenetic Resource Committee of the two colleges to assess the ability of testing laboratories to process DNA samples provided and interpret results. Supplemental questions were asked with each Survey to determine laboratory practice trends.
  
  
  RESULTS
  Twelve DNA specimens, representing 2 pilot and 10 Survey challenges, were distributed to as many as 74 different laboratories, yielding 493 individual responses. The mean consensus for matching result interpretations was 95.7%. Responses to supplemental questions indicate that the number of laboratories offering this testing is increasing, methods for analysis and evaluation are becoming standardized, and array platforms used are increasing in probe density.
  
  
  CONCLUSIONS
  The College of American Pathologists/American College of Medical Genetics proficiency testing program for copy number assessment by cytogenomic microarray is a successful and efficient mechanism for assessing interlaboratory reproducibility. This will provide laboratories the opportunity to evaluate their performance and assure overall accuracy of patient results. The high level of concordance in laboratory responses across all testing platforms by multiple facilities highlights the robustness of this technology.
authors.affiliation: Department of Pediatrics and Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, USA. art.brothman@genetics.utah.edu
authors.forename: Arthur R
authors.initials: AR
authors.lastname: Brothman
authors.forename: Michelle M
authors.initials: MM
authors.lastname: Dolan
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Goodman
authors.forename: Jonathan P
authors.initials: JP
authors.lastname: Park
authors.forename: Diane L
authors.initials: DL
authors.lastname: Persons
authors.forename: Debra F
authors.initials: DF
authors.lastname: Saxe
authors.forename: James H
authors.initials: JH
authors.lastname: Tepperberg
authors.forename: Karen D
authors.initials: KD
authors.lastname: Tsuchiya
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Van Dyke
authors.forename: Kathleen S
authors.initials: KS
authors.lastname: Wilson
authors.forename: Daynna J
authors.initials: DJ
authors.lastname: Wolff
authors.forename: Karl S
authors.initials: KS
authors.lastname: Theil
mesh_terms: D020732:Cytogenetic Analysis / Q000379:methods / Q000592:standards*; D003625:Data Collection; D006801:Humans; D007753:Laboratories / Q000592:standards; D059021:Laboratory Proficiency Testing / Q000592:standards*; D046228:Microarray Analysis / Q000379:methods / Q000592:standards*; D012955:Societies, Medical; D014481:United States