The Next Generation Sequencing (NGS) technology offers fast and cost-effective molecular diagnostic testing for genetic heterogeneous diseases. Until now, no efficient diagnostic platform was available to analyze diseases for which the phenotype is caused by many different genes. Examples of these so-called multigenic deseases are deafness, retinitis pigmentosa, cardiomyopathy, Parkinson, mental retardation, etc. For all those diseases at least ten different genes are responsible.

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 :