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Open Access Research article

Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma

Candy Kumps1, Nadine Van Roy1, Lien Heyrman23, Dirk Goossens23, Jurgen Del-Favero23, Rosa Noguera4, Jo Vandesompele1, Frank Speleman1 and Katleen De Preter1*

Author affiliations

1 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

2 Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Belgium

3 University of Antwerp (UA), Antwerp, Belgium

4 Department of Pathology, Medical School of Valencia, University of Valencia, Valencia, Spain

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Citation and License

BMC Genomics 2010, 11:298  doi:10.1186/1471-2164-11-298

Published: 12 May 2010

Abstract

Background

Cancer genomes display characteristic patterns of chromosomal imbalances, often with diagnostic and prognostic relevance. Therefore assays for genome-wide copy number screening and simultaneous detection of copy number alterations in specific chromosomal regions are of increasing importance in the diagnostic work-up of tumors.

Results

We tested the performance of Multiplex Amplicon Quantification, a newly developed low-cost, closed-tube and high-throughput PCR-based technique for detection of copy number alterations in regions with prognostic relevance for neuroblastoma. Comparison with array CGH and the established Multiplex Ligation-dependent Probe Amplification method on 52 neuroblastoma tumors showed that Multiplex Amplicon Quantification can reliably detect the important genomic aberrations.

Conclusion

Multiplex Amplicon Quantification is a low-cost and high-throughput PCR-based technique that can reliably detect copy number alterations in regions with prognostic relevance for neuroblastoma.