Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2014)
Journal of Laboratory Medicine and Quality Assurance
;
: 56-63, 2015.
Article
in Korean
| WPRIM
| ID: wpr-104675
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 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenylketonurias
/
Vanilmandelic Acid
/
Catecholamines
/
Mass Screening
/
Adrenal Hyperplasia, Congenital
/
Congenital Hypothyroidism
/
Education
/
Tandem Mass Spectrometry
/
Amino Acids
/
Homocystinuria
Type of study:
Prognostic study
/
Screening study
Limits:
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of Laboratory Medicine and Quality Assurance
Year:
2015
Type:
Article
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