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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing
Colin C Pritchard1, Christina Smith, Stephen J Salipante
1Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA. cpritch@uw.edu
The Journal of Molecular Diagnostics : JMD
|June 5, 2012
Summary
ColoSeq is a new genetic testing assay for Lynch syndrome and polyposis syndromes. This comprehensive test accurately detects all mutation types in key genes, improving diagnostic efficiency.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- Lynch syndrome (hereditary nonpolyposis colon cancer) and adenomatous polyposis syndromes share clinical features.
- Current genetic testing is often stepwise, leading to delays and increased costs.
Purpose of the Study:
- To develop and validate ColoSeq, a comprehensive assay for detecting mutations in genes associated with Lynch and polyposis syndromes.
- To evaluate the accuracy, sensitivity, and reproducibility of the ColoSeq assay.
Main Methods:
- Targeted capture and massively parallel next-generation sequencing on the Illumina HiSeq2000.
- Testing of blinded specimens, colon cancer cell lines, and HapMap samples.
- Specificity study using control patients without cancer.
Main Results:
- ColoSeq achieved 100% accuracy in detecting all pathogenic mutations (SNVs, indels, CNVs) in Lynch and polyposis genes.
- The assay demonstrated 100% reproducibility and high sensitivity (99.4%) for heterozygous SNVs.
- No pathogenic mutations were found in control patients, indicating high specificity.
Conclusions:
- ColoSeq provides a powerful, cost-effective, and comprehensive genetic testing solution for Lynch and polyposis syndromes.
- The assay eliminates the need for stepwise testing, streamlining diagnosis and patient management.
