J Lab Med Qual Assur 2016; 38(2): 68-76
Published online June 30, 2016
https://doi.org/10.15263/jlmqa.2016.38.2.68
Copyright © Korean Association of External Quality Assessment Service.
Soo-Youn Lee1, Ok Ja Ji1, Gye Cheol Kwon2, Jong- Won Kim1, Hyung-Doo Park1, Junghan Song3, Sang- Guk Lee4, Yong-Wha Lee5, Eun Hee Lee6, Sail Chun7, and Tae Youn Choi8, as the Biochemical Genetics Subcommittee, Korean Association of External Quality Assessment Service
1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul;
2Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon;
3Department of Laboratory Medicine, Seoul Natinal University Bundang Hospital, Seongnam;
4Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul;
5Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon;
6Green Cross Laboratories, Yongin;
7Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine;
8Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea
Correspondence to:Soo-Youn Lee
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-1834
Fax: +82-2-3410-2719
E-mail: suddenbz@skku.edu
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Two external quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as newborn screening tests using tandem mass spectrometry, were performed in 2015. A total of 44 specimens in the form of dried blood spots were distributed to 16 laboratories and the response rate of these laboratories was 100%. The mean, standard deviation, coefficient of variation, median, and cut-offs were evaluated for each analyte in the newborn screening tests. Two EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, catecholamines, metanephrines, organic acids, and amino acids were also performed. A well-designed EQA program and continuous education would improve the performance of biochemical genetics tests. (J Lab Med Qual Assur 2016;38:68-76)
Keywords: External quality assessment, Newborn screening, Tandem mass spectrometry, Biochemical genetics
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