Automated mass spectrometry: a revolutionary technology for clinical diagnostics

Mol Diagn. 2000 Dec;5(4):341-8. doi: 10.1007/BF03262095.


For various diagnostic analyses and the studies of functional genomics, the use of an accurate and cost-effective analytic platform to analyze large numbers of samples is essential. An automated platform called MassArray (Sequenom, Inc, San Diego, CA), designed for high-throughput diagnostic analyses, has recently been validated. The platform combines miniaturized, two-dimensional chip arrays with proven high-fidelity enzymatic procedures and matrix-assisted laser-desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry. Nanoliter dispensing of samples in high-density formats of 384 or greater results in improved throughput and reduced costs. Automation prevails from the initial assay design through sample processing and data analysis, for the most part eliminating the labor component of assay development and implementation. The MassArray platform is being used in the following areas: (1) molecular diagnosis of genetic disease and infectious agents, (2) pharmacogenomics, (3) paternity and/or identity testing, and (4) agriculture (e.g., marker-assisted breeding). MALDI-TOF mass spectrometry can also be used for analyzing proteins; therefore, genotype/phenotype testing can be performed on a single platform.

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Mapping / instrumentation
  • Chromosome Mapping / methods
  • DNA Fingerprinting / instrumentation
  • DNA Fingerprinting / methods
  • Diagnosis, Computer-Assisted / methods*
  • Genotype
  • Hemoglobin, Sickle / genetics
  • Humans
  • Male
  • Mass Spectrometry / instrumentation*
  • Mass Spectrometry / methods*
  • Middle Aged
  • Paternity
  • Polymorphism, Single Nucleotide / genetics


  • Hemoglobin, Sickle