Arginine, as a Key Indicator for Real-Time Stability Monitoring of Quality Control in the Newborn Screening Test Using Dried Blood Spot

Abstract

Dried blood spots (DBS) have advantages such as minimizing blood collection volume and the distress to neonate. DBS have been used for tandem mass spectrometry (MS/MS)-based newborn screening tests (NST) of amino acid (AA) and acylcarnitine. The Newborn Screening Quality Assurance Program (NSQAP) have been provided quality control (QC) materials for MS/MS, as DBS cards. The NSQAP is generally provided within 14 months of the shelf life and the recommended storage condition is at −10 °C to −30 °C. Previously, several accelerated degradation studies had been performed to determine the transportation stability and short-term stability of AAs and acylcarnitines in DBS. However, the experimental condition is markedly different to the storage condition. We performed long-term monitoring for the real-time stability of seven AAs and 14 acylcarnitines from three levels of 2012 NSQAP QC materials across a time period of 788 days. Arginine suddenly yielded a catastrophic degeneration pattern, which started around D300. When comparing this with previous accelerated degradation studies, methionine, tyrosine, citrulline, and acetylcarnitine did not show a remarkable measurand drift for the real-time stability, except for arginine. Our study showed that arginine would require intensive QC monitoring in routine practice, and should be used for the assessment of the stability in long-term storage of DBS samples for biobanking.

Keywords

• arginine
• dried blood spot
• amino acid
• acylcarnitine
• real-time stability
• accelerated degradation study