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J Lab Med Qual Assur. 2015 Jun;37(2):56-63. Korean. Brief Communication. https://doi.org/10.15263/jlmqa.2015.37.2.56
Lee SY , Ji OJ , Kwon GC , Kim JW , Park HD , Song J , Lee SG , Lee YW , Lee EH , Chun S , Choi TY , .
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. suddenbz@skku.edu
Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon, Korea.
Department of Laboratory Medicine, Seoul Natinal University Bundang Hospital, Seongnam, Korea.
Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
Green Cross Laboratories, Yongin, Korea.
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Department of Laboratory Medicine, Soonchunhyang University Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.
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 newborn screening tests were performed using tandem mass spectrometry in 2014. A total of 39 specimens in the form of dried blood spots were distributed to 16 laboratories and the response rate of these laboratories was 100%. Screening tests for phenylketonuria and congenital hypothyroidism did not meet the accepted performance criteria in some laboratories. 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, catecholamines, metanephrines, organic acids, and amino acids were also performed. A well-designed EQA program and continuous education would improve the performance of biochemical genetic testing.

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