선천성 대사질환검사 신빙도조사 결과보고(2004)

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%(39/40) 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 (totallfree), 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 JMSIMS) was also performed. Total 8 blood spots were distributed to 7 laboratories performing newborn screening using MSIMS Participants results for amino acids & acylcarnitine and their cutoff values were analyzed.