J Lab Med Qual Assur.
2016 Jun;38(2):68-76. 10.15263/jlmqa.2016.38.2.68.
Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2015)
- Affiliations
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- 1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. suddenbz@skku.edu
- 2Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon, Korea.
- 3Department of Laboratory Medicine, Seoul Natinal University Bundang Hospital, Seongnam, Korea.
- 4Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
- 5Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
- 6Green Cross Laboratories, Yongin, Korea.
- 7Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Korea.
- 8Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.
- KMID: 2328228
- DOI: http://doi.org/10.15263/jlmqa.2016.38.2.68
Abstract
- 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.
Keyword
MeSH Terms
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Adrenal Hyperplasia, Congenital
Amino Acids
Catecholamines
Congenital Hypothyroidism
Education
Galactosemias
Homocystinuria
Humans
Infant, Newborn
Korea*
Maple Syrup Urine Disease
Mass Screening
Methylmalonic Acid
Molecular Biology*
Phenylketonurias
Tandem Mass Spectrometry
Vanilmandelic Acid
Amino Acids
Catecholamines
Methylmalonic Acid
Vanilmandelic Acid
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