Current problems and prospect on tandem mass spectrometry based newborn inherited metabolic diseases screening / 中华检验医学杂志

ABSTRACT

Newborn screening of inherited metabolic diseases by tandem mass spectrometry is flourishing in our country.With expansion of the coverage and spectrum of diseases, it is important to strengthen the quality management, optimize the performance and reduce the false rate currently, such as quality assurance of the specimens, quality control of the process, quality verification of the test procedure, quality evaluation of the laboratory and quality optimization of the interpretation method. Along with development of the equipment, software and project, promotion of regional collaboration by data and experience sharing will be more critical in the future, and national neonatal screening by tandem mass spectrometry will step into a new stage.