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Related Experiment Videos

From single cell gene-based diagnostics to diagnostic genomics: current applications and future perspectives.

Richard Zhao1

  • 1Division Head of Molecular Pathology, Department of Pathology, University of Maryland Medical Center, Baltimore, MD 21201-1192, USA. rzhao@som.umaryland.edu

Clinical Laboratory Science : Journal of the American Society for Medical Technology
|December 1, 2005
PubMed
Summary

Molecular diagnostics utilizes DNA/RNA biomarkers for disease detection, employing gene-based amplification technologies like PCR for accurate clinical testing and identifying genetic alterations.

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Area of Science:

  • Clinical diagnostics
  • Molecular biology
  • Biotechnology

Background:

  • Molecular diagnostics leverages DNA/RNA biomarkers for disease identification.
  • It integrates gene-based amplification and detection methods for diverse conditions.
  • Key applications include diagnosing infectious diseases, cancer, and inherited disorders.

Purpose of the Study:

  • To review current gene-based amplification and detection technologies.
  • To discuss their clinical applications in molecular diagnostics.
  • To introduce emerging technologies for future gene-based diagnosis.

Main Methods:

  • Overview of target-based (e.g., PCR), probe-based (e.g., LCR), and signal-based (e.g., bDNA) amplification.
  • Discussion of real-time PCR for quantification and mutation detection.

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  • Exploration of highly sensitive techniques like immuno-PCR and bio-barcode assay (BCA).

    • Main Results:

    • Gene-based amplification identifies pathogen nucleic acids or disease-related gene alterations.
    • Real-time PCR enables quantification and mutation detection.
    • Advanced methods like immuno-PCR and BCA offer extreme sensitivity (femtogram to zeptogram).

    Conclusions:

    • Current molecular diagnostic technologies provide robust tools for disease detection.
    • Emerging technologies, including quantum dots and single-cell analysis, promise enhanced sensitivity and specificity.
    • Future advancements in genomic and proteomic approaches will expand gene-based diagnostics.