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Electrophoretic microfluidic devices for mutation detection in clinical diagnostics.

Alison H Dewald¹, Brian L Poe, James P Landers

¹University of Virginia, Department of Chemistry, McCormick Road, Charlottesville, VA 22904, USA +1 434 243 8658 ; +1 434 924 3048 ; landers@virginia.edu.

Expert Opinion on Medical Diagnostics

|March 19, 2013

Summary

Microfluidic devices offer rapid, sensitive, and low-cost detection of genetic variants for personalized medicine. These lab-on-a-chip technologies streamline genetic analysis for point-of-care molecular diagnostics.

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Area of Science:

Biomedical Engineering
Genomics
Molecular Diagnostics

Background:

Personalized medicine relies on widespread patient genotyping for clinical utility.
Rapid, sensitive, and low-cost genetic variant detection is crucial.
Electrophoretic microfluidic devices offer advantages like speed, reagent economy, and miniaturization.

Purpose of the Study:

This review focuses on microchip applications for detecting clinically relevant genomic DNA mutations and polymorphisms.
It highlights the utility of glass and polymeric microchips in medical applications.

Main Methods:

The review covers various mutation analysis techniques.
Methods discussed include direct gene sizing, enzyme-based assays, heteroduplex analysis, single-strand conformational polymorphism analysis, and multiplex, allele-specific, and methylation-specific PCR.

Main Results:

Microfluidic devices enable faster analysis and reduced reagent consumption.
These platforms have the potential for seamless integration of multiple analytical steps.
The development of microchips supports diverse medical applications.

Conclusions:

Lab-on-a-chip (micro total analysis system) technologies aim to miniaturize and streamline genetic analysis.
Further development will enable rapid, point-of-care molecular diagnostics.
Microfluidic devices are key to advancing personalized medicine through efficient genetic variant detection.