Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2015).
10.15263/jlmqa.2016.38.2.68
- Author:
Soo Youn LEE
1
;
Ok Ja JI
;
Gye Cheol KWON
;
Jong Won KIM
;
Hyung Doo PARK
;
Junghan SONG
;
Sang Guk LEE
;
Yong Wha LEE
;
Eun Hee LEE
;
Sail CHUN
;
Tae Youn CHOI
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. suddenbz@skku.edu
- Publication Type:Brief Communication
- Keywords:
External quality assessment;
Newborn screening;
Tandem mass spectrometry;
Biochemical genetics
- MeSH:
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
- From:Journal of Laboratory Medicine and Quality Assurance
2016;38(2):68-76
- CountryRepublic of Korea
- Language:Korean
-
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.
