Application Note: Rapid Detection of Genomic Duplications and Deletions using the Agilent 2100 Bioanalyzer
8 July 2013
Duplications and deletions are known to cause a wide variety of human diseases including cancer. Many different methods are used for detecting such rearrangements, most based on either FISH or the quantitative analysis of PCR products. FISH is popular and accurate, but very labor intensive and expensive, while quantitative PCR methods are technically demanding and difficult to design. Recently two related methods (MAPH and MLPA) have been developed and applied to different disorders. Several methods for the analysis of the products were used, using a labeled primer and either gel or capillary electrophoresis. This Application Note describes the Agilent 2100 bioanalyzer in combination with the DNA 500 chip for the detection of copy number changes within the genome using MAPH and MLPA. The speed, ease of data analysis and potential for automation make this an attractive alternative for conventional methods in a diagnostic setting.