Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders

Genetics in Medicine

Volumn 16, Issue 1, 2014, Pages 25-32

  Richards, C Sue ^a   Palomaki, Glenn E ^b   Lacbawan, Felicitas L ^c   Lyon, Elaine ^d   Feldman, Gerald L ^e  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b BROWN UNIVERSITY   (United States)

^c Laboratory Medicine Institute   (United States)

^d ARUP LABORATORIES   (United States)

^e WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

DNA sequencing; genetic diseases; next generation sequencing; proficiency testing; rare disorders

Indexed keywords

DNA; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP C PROTEIN;

ARTICLE; CLINICAL LABORATORY; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA SEQUENCE; FANCONI ANEMIA; GENE DELETION; GENETIC DISORDER; GENETIC SCREENING; HEALTH CARE SURVEY; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; QUESTIONNAIRE; RARE DISEASE; RETROSPECTIVE STUDY; RNA SPLICING;

DATA COLLECTION; GENETIC TESTING; HUMANS; LABORATORIES; LABORATORY PROFICIENCY TESTING; RARE DISEASES; SEQUENCE ANALYSIS, DNA; SOCIETIES, MEDICAL; UNITED STATES;

EID: 84893635979     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.65     Document Type: Article

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