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Related Experiment Video

Updated: Jun 3, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Automated genotyping in diagnosis.

J S Noble¹, K J Leach, L A Ellis

¹DNA Laboratory, Clinical Genetics Unit, St. James's University Hospital, Leeds, UK.

Methods in Molecular Medicine

|March 5, 2011

Summary

This summary is machine-generated.

Automated genotyping uses DNA sequencing and computer analysis for accurate diagnosis. This method enhances molecular genetics laboratory workflows for reliable genetic testing.

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Area of Science:

Molecular Genetics
Bioinformatics
Diagnostic Laboratory Science

Background:

Automated genotyping is crucial for DNA detection, digitization, and analysis in diagnostics.
Current diagnostic molecular genetics laboratories require efficient methods for analyzing labeled DNA.

Purpose of the Study:

To describe the application of the Applied Biosystems 373 DNA Sequencer and Genescan 672 software.
To detail the process of sizing fluorescently labeled PCR products within a diagnostic setting.

Main Methods:

Utilized fluorescently labeled primers or dNTPs for polymerase chain reaction (PCR) product generation.
Employed polyacrylamide gel electrophoresis for separation and sizing of PCR products.
Analyzed data using Genescan 672 software on a Macintosh system for automated genotyping.

Main Results:

Successfully sized fluorescently labeled PCR products using the described automated genotyping workflow.
Established a procedure for data analysis and archiving, from PCR to final results.

Conclusions:

The Applied Biosystems 373 DNA Sequencer and Genescan 672 software provide a robust method for automated genotyping in diagnostic molecular genetics.
This workflow streamlines the analysis of labeled DNA, contributing to accurate and efficient genetic testing.