Search for


TEXT SIZE

search for



Annual Report on External Quality Assessment of Biochemical Genetics in Korea (2013)
J Lab Med Qual Assur 2014;36:64-70
Published online June 30, 2014
© 2014 Korean Association of Quality Assurance for Clinical Laboratory.

Soo-Youn Lee, as Biochemical Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory

Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence to: Soo-Youn Lee
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 135-710, Korea
Tel: +82-2-3410-1834
Fax: +82-2-3410-2719
Email: 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.
 Abstract
Two trials of external quality assessment (EQA) of conventional newborn screening tests for phenylketonuria, galactosaemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as of newborn screening tests using tandem mass spectrometry were performed in 2013. A total of 32 specimens in the form of dried blood spots were distributed to 16 laboratories and the response rate of these laboratories was 100%. Total T4, free T4, 17-hydroxyprogesterone, leucine, isoleucine, galactose, methionine, alanine, C8/C2, C8/C10, and C5-OH did not meet the accepted performance criteria. The mean, standard deviation, coefficient of variation, median, and cut-offs were evaluated for each analyte in the newborn screening tests. Two trials of EQA for the analyses of methylmalonic acid, vanillylmandelic acid, very long fatty acids, organic acids, and amino acids were also performed. A well-designed EQA program and continuous education would improve the performance of biochemical genetic tests. (J Lab Med Qual Assur 2014;36:64-70)
Keywords : External quality assessment, Newborn screening, Tandem mass spectrometry, Molecular biology
References
  1. Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, et al. Annual report on external quality assessment in metabolic disorders in Korea (2007). J Lab Med Qual Assur 2008;30:151-66.
  2. Lee SY, Kwon KC, Kim JH, Kim JW, Park BT, Park HD, et al. Annual report on external quality assessment in biochemical genetics in Korea (2012). J Lab Med Qual Assur 2013;35:S29-63.
  3. Lee SY, Kwon KC, Kim JH, Kim JW, Park BT, Park HD, et al. Annual report on external quality assessment in biochemical genetics in Korea (2011). J Lab Med Qual Assur 2012;34:S25-49.