Tandem mass spectrometry clinical chemistry

Chace DH, Hillman SL, Van Hove JL, and Naylor EW (1997) Rapid diagnosis of MCAD deficiency quantitatively analysis of octanoylcarnitine and other acylcamitines in newborn blood spots by tandem mass spectrometry. Clinical Chemistry 43 2106-2113. 

Because of these ever-widening interests, the measurement of plasma tHcy is undertaken in many clinical chemistry and routine laboratories. Various methods are employed, including high-performance liquid chromatography (HPLC) assays, conventional amino acid analysis, capillary electrophoresis, gas chromatography with or without mass spectrometry, liquid chromatography with tandem mass spectrometry, and in many routine clinical chemistry laboratories immunoassays. In this chapter, those methods that are often available in laboratories involved in the investigation of inborn errors of metabolism are described, namely HPLC and tandem mass spectrometry. 

Another technological development in tandem mass spectrometry is the combination of two TOP mass spectrometers, TOF/TOK These instruments have excellent sensitivity and throughput for MALDI-MS/MS and are especially suited for proteomics research. However, these instruments are unable to perform true precursor ion scans or constant neutral loss scans. The Bruker Daltonics ultra-flex and Applied Biosystem 4700 proteomics analyzer are examples of this type of instrument, Such mstruments have yet to make an impact in clinical chemistry. 

Roddy T.P., Nelson B.C., Sung C.C., Araghi S., Wilkens D., Zhang X.K., Thomas J.J., Richards S.M., Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy, Clinical chemistry 51 (2005) 237-240. 

Chace DH, DiPetna JC, Mitchell BL, et al. (2001) Electrospray tandem mass spectrometry for analysis of acylcamitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clinical Chemistry 47 1166-1182. 

Chace DH, Sherwin JE, and Hillman SL (1998) Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clinical Chemistry 44 2405-2409. 

Fazili, Z., PfeifTer, C.M., Zhang, M., and Jain, R., 2005. Erythrocyte folate extraction and quantitative determination by Kquid chromatography-tandem mass spectrometry Comparison of results with microbiologic assay. Clinical Chemistry. 51 2318-2325. 

Casetta, B., Gravier, M., Belva, H., Tavet, Y., Cuvelier, 1. and Olichon, D., Quantitation by liquid chromatography-tandem mass spectrometry (LC-MSMS) of very long chain fatty acids (VLCFA) as a tool for the characterization of peroxisomal disorders. Poster D-130 at XIX International Congress of Clinical Chemistry/2005 AACC Annual Meeting. 

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