J Lab Med Qual Assur.  2014 Jun;36(2):64-70.

Annual Report on External Quality Assessment of Biochemical Genetics in Korea (2013)

• Lee SY
• Biochemical Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory

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.

Keyword

External quality assessment; Newborn screening; Tandem mass spectrometry; Molecular biology

MeSH Terms

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
17-alpha-Hydroxyprogesterone
Alanine
Amino Acids
Fatty Acids
Galactose
Isoleucine
Leucine
Methionine
Methylmalonic Acid
Vanilmandelic Acid