MUTATION DETECTION

This service uses the technologies at TIGEM together with additional resources from group of Naples University to help researchers to find mutations in genes. This more quickly and at much lower costs. This is possible because the analysis is performed using three instruments that process more than 750 DNA samples/24 hours. After this analysis the researcher knows which of these DNA contain possible sequence differences. These sample are then sequenced and re-sequenced and the sequence variations are identified. At this point each variation is matched with data bases and compared with large DNA pools of normal DNA. When the variation is found only in affected subjects and not in normal individuals it becomes "putative mutation". This can be done by the single lab, but by sequencing alone, i.e at much higher costs and with longer efforts. In addition, most research groups have little experience with the high degree of variations in the human population and the comparison with matched controls is often insufficient.