J Lab Med Qual Assur.  2005 Jun;27(1):125-140.

Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2004)

• Song J
• Kwon KC
• Kim JH
• Kim JW
• Min WK
• Lee SY
• Lee EH
• Jun SH
• Choi TY

Abstract

The trial of external quality assessment for inborn error of metabolism was performed twice in 2004. Total 10 specimens for the conventional newborn screening tests were distributed to 43 laboratories. The response rates were 90.7%(39/43) in first trial and 90%(36/40) in second trial. All the control materials were sent as filter paper forms. Each laboratory replied the test results as the screening items they were doing as a routine test at the reception of the specimen among PKU screening, TSH, T4 (total/free), galactosemia screen, maple syrup urine disease screen, homocytinuria screen and histidinemia screen. The mean, SD, CV, median and range were analyzed. From this trial, pilot proficiency test for newborn screening using tandem mass spectrometry (MS/MS) was also performed. Total 8 blood spots were distributed to 7 laboratories performing newborn screening using MS/MS. Participants results for amino acids & acylcarnitine and their cutoff values were analyzed.

Keyword

External quality assurance; Inborn error of metabolism; Newborn screening; Tandem mass spectrometry

MeSH Terms

Amino Acids
Galactosemias
Humans
Infant, Newborn
Korea*
Maple Syrup Urine Disease
Mass Screening
Metabolism*
Tandem Mass Spectrometry
Amino Acids