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KMID : 0985420150370020056
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Laboratory Medicine and Quality Assurance
2015 Volume.37 No. 2 p.56 ~ p.63
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Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2014)
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Lee Soo-Youn
Ji Ok-Ja
Kwon Kye-Chul
Kim Jong-Won
Park Hyung-Doo
Song Jung-Han
Lee Sang-Guk
Lee Yong-Wha
Lee Eun-Hee
Chun Sa-Il
Choi Tae-Youn
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Abstract
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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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KEYWORD
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External quality assessment, Newborn screening, Tandem mass spectrometry, Biochemical genetics
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