Advertisement

Instrumentation for Molecular Testing

  • Jordan Laser
  • Miao Cui
  • Bruce E. Petersen
  • Fei Ye
  • David Y. Zhang
Reference work entry

Abstract

The following is a brief overview of representative instruments and categories of instruments central to the practice of molecular diagnostics and related fields. Some of these instruments or technologies have been introduced in other chapters. The goal in this chapter is to provide the readers with latest and common instrument and technologies with basic understanding of the principle of operation and the clinical applications. While a comprehensive survey of all such equipment is beyond the scope of this handbook, more extensive information is readily available from manufacturers’ websites and brochures.

Keywords

Polymerase Chain Reaction Light Emit Diode General Information Fluorescent Resonance Energy Transfer Conventional Polymerase Chain Reaction 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Further Reading

  1. Bock C, Kiskinis E, Verstappen G, Gu H, Boulting G, Smith ZD, et al. Reference maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines. Cell. 2011;144:439–52.PubMedCrossRefGoogle Scholar
  2. C & L Instruments Inc., Tutorial – fluorescent microscope optics. C&L Instruments, Inc. Hershey, PA. http://www.fluorescence.com/tutorial/fm-optic.htm.
  3. Garber K. Fixing the front end. Nat Biotechnol. 2008;26:1101–4.PubMedCrossRefGoogle Scholar
  4. Gaumann R, Muhlemann K, Strasser M, Beuret CM. High-throughput procedure for tick surveys of tick-borne encephalitis virus and its application in a national surveillance study in Switzerland. Appl Environ Microbiol. 2010;76:4241–9.PubMedCrossRefGoogle Scholar
  5. Heller C. Principles of DNA separation with capillary electrophoresis. Electrophoresis. 2001;22:629–43.PubMedCrossRefGoogle Scholar
  6. Heller M, Loomes KM, Cooper GJ. Synthesis of biologically active tritiated amylin and salmon calcitonin analogues. Anal Biochem. 2000;285:100–4.PubMedCrossRefGoogle Scholar
  7. Hieber L, Huber R, Bauer V, Schaffner Q, Braselmann H, Thomas G, et al. Chromosomal rearrangements in post-Chernobyl papillary thyroid carcinomas: evaluation by spectral karyotyping and automated interphase FISH. J Biomed Biotechnol. 2011;2011:693691.PubMedCrossRefGoogle Scholar
  8. Holland PM, Abramson RD, Watson R, Gelfand DH. Detection of specific polymerase chain reaction product by utilizing the 5′––3′ exonuclease activity of Thermus aquaticus DNA polymerase. Proc Natl Acad Sci USA. 1991;88:7276–80.PubMedCrossRefGoogle Scholar
  9. Hubner NC, Bird AW, Cox J, Splettstoesser B, Bandilla P, Poser I, et al. Quantitative proteomics combined with BAC TransgeneOmics reveals in vivo protein interactions. J Cell Biol. 2010;189:739–54.PubMedCrossRefGoogle Scholar
  10. Kinde I, Wu J, Papadopoulos N, Kinzler KW, Vogelstein B. Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci USA. 2011;108:9530–5.PubMedCrossRefGoogle Scholar
  11. Kohane IS, Kho AT, Butte AJ. Microarrays for an integrative genomics. Cambridge, MA: MIT Press; 2003.Google Scholar
  12. Laakso S, Kirveskari J, Tissari P, Maki M. Evaluation of high-throughput PCR and microarray-based assay in conjunction with automated DNA extraction instruments for diagnosis of sepsis. PLoS One. 2011;6:e26655.PubMedCrossRefGoogle Scholar
  13. Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, et al. Target-enrichment strategies for next-generation sequencing. Nat Methods. 2010;7:111–8.PubMedCrossRefGoogle Scholar
  14. National Center for Biotechnology Information (NCBI) http://www.ncbi.nlm.nih.gov/About/primer/microarrays.html.
  15. Pieprzyk M, High H. Fluidigm dynamic arrays provide a platform for single-cell gene expression analysis. Nat Meth. 2009;6. http://www.nature.com/nmeth/journal/v6/n7/full/nmeth.f.259.html.
  16. Raggam RB, Wagner J, Bozic M, Michelin BD, Hammerschmidt S, Homberg C, et al. Detection and quantitation of Epstein-Barr virus (EBV) DNA in EDTA whole blood samples using automated sample preparation and real time PCR. Clin Chem Lab Med. 2010;48:413–8.PubMedCrossRefGoogle Scholar
  17. Ramachandran S, Xia GL, Ganova-Raeva LM, Nainan OV, Khudyakov Y. End-point limiting-dilution real-time PCR assay for evaluation of hepatitis C virus quasispecies in serum: performance under optimal and suboptimal conditions. J Virol Methods. 2008;151:217–24.PubMedCrossRefGoogle Scholar
  18. Reis PP, Waldron L, Goswami RS, Xu W, Xuan Y, Perez-Ordonez B, et al. mRNA transcript quantification in archival samples using multiplexed, color-coded probes. BMC Biotechnol. 2011;11:46.PubMedCrossRefGoogle Scholar
  19. Rocha CK, Praulich I, Gehrke I, Hallek M, Kreuzer KA. A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasia resulting in a fusion of IGL and CCND1: case report. Mol Cytogenet. 2011;4:8.PubMedCrossRefGoogle Scholar
  20. Somboonna N, Wan R, Ojcius DM, Pettengill MA, Joseph SJ, Chang A, et al. Hypervirulent Chlamydia trachomatis clinical strain is a recombinant between lymphogranuloma venereum (L(2)) and D lineages. MBio. 2011;2:e00045–11.PubMedCrossRefGoogle Scholar
  21. van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365:54–61.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Jordan Laser
    • 1
  • Miao Cui
    • 2
  • Bruce E. Petersen
    • 2
  • Fei Ye
    • 2
  • David Y. Zhang
    • 2
  1. 1.Department of Pathology and Laboratory MedicineNorth Shore/Long Island Jewish Health SystemManhassetUSA
  2. 2.Department of PathologyMount Sinai School of MedicineNew YorkUSA

Personalised recommendations