Annual Report on External Quality Assessment of Biochemical Genetics in Korea (2013).
- Author:
Soo Youn LEE
1
Author Information
1. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. suddenbz@skku.edu
- Publication Type:Original Article
- Keywords:
External quality assessment;
Newborn screening;
Tandem mass spectrometry;
Molecular biology
- MeSH:
17-alpha-Hydroxyprogesterone;
Adrenal Hyperplasia, Congenital;
Alanine;
Amino Acids;
Congenital Hypothyroidism;
Education;
Fatty Acids;
Galactose;
Homocystinuria;
Humans;
Infant, Newborn;
Isoleucine;
Korea;
Leucine;
Maple Syrup Urine Disease;
Mass Screening;
Methionine;
Methylmalonic Acid;
Molecular Biology*;
Phenylketonurias;
Tandem Mass Spectrometry;
Vanilmandelic Acid
- From:Journal of Laboratory Medicine and Quality Assurance
2014;36(2):64-70
- CountryRepublic of Korea
- Language:Korean
-
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.
