Yoonjoo Kim (Presenter)
EONE Laboratories
Authorship: Yoonjoo Kim, He Young Song, Jung su Lee, Gwi young Oh, Young-Ho Yoon
Department of Laboratory Medicine, Eone Laboratories, Incheon, Korea
| Short Abstract We summarized the data of newborn screening tests in EONE Laboratories from January 2013 to september 2015, and compared the results with the previous reports in Korea. A total of 155,331 dried blood specimens (DBS) were analyzed for 11 amino acids and 14 acylcarnitines using MS/MS (API 2000, AB Sciex, Canada). 0.6% of all screened samples were positive in the initial screening test. We recommend the second screening test to confirm the positive marker for these samples. Of these, 976 repeat samples were available for retest. After the second screening test, one hundred eighty five samples were positive again; 92 positive samples for amino acids, with phenylalanine being the most common; and 93 positives for acylcarnitines, C5-acylcarnitnine as the most common. Regarding positivity rate and a spectrum of abnormal analytes, the results were similar to those reported previously. |
Long Abstract
Introduction
Although newborn screening tests for metabolic disorders by tandem mass spectrometry (MS/MS) was introduced in Korea over a decade ago, a few published data are available. Therefore, we summarized here our results for screening newborns by MS/MS.
Methods
We reviewed the data of newborn screening tests in EONE Laboratories from January 2013 to september 2015, and compared the results with the previous reports in Korea. A total of 155,331 dried blood specimens (DBS) were analyzed for 11 amino acids and 14 acylcarnitines using MS/MS (API 2000, AB Sciex, Canada).
Results
During this period, 1047 DBS were positive (0.6% of all screened) in the initial screening test. We recommend the second screening test to confirm the positive marker for these samples. Of these, 976 repeat samples were available for retest. After the second screening test, one hundred eighty five samples were positive again; 92 positive samples for amino acids, with phenylalanine being the most common; and 93 positives for acylcarnitines, C5-acylcarnitnine as the most common.
Conclusions
Regarding positivity rate and a spectrum of abnormal analytes, the results were similar to those reported in the previous reports. We have presented the data of newborn screening tests for metabolic disorders by MS/MS in our laboratory so that they can be compared with others.
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