The first important step in the use of a NGS platform for molecular diagnostics, is the isolation of the regions of interest on the genome. These represent all exons of the genes involved for a specific multigenic disease. In our approach, the selection will be performed by multiplex PCR whereas identification of patients within the pool of sequencing reactions will be done by tagging the amplified product. Consequently, sequence analysis of all these tagged amplicons is executed on the NGS platform during which millions of basepairs are generated in a single run, resulting in the identification of the disease causing mutation in a set of patients.
We are constantly designing novel workflows for NGS :