First NGS diagnostic results

This week the genome diagnostics section are sending out the first letters to announce DNA test results determined by new next-generation sequencing (NGS) techniques. The letters contain reports on mutational analysis in 55 genes involved in inherited cardiomyopathies. This morning Prof. Richard Sinke (left), head of genome diagnostics, and Jan Jongbloed, officially handed the first letter to Peter van Tintelen (right), clinical geneticist. In the past few months, many people in the section have worked hard towards this exciting moment.

Of course, it doesn’t end here: in the coming weeks up to 150 cardio­myopathy patients will be sent similar letters. More patients will now be analysed using this new technique, a new method to analyse patients with oncological diseases will be started, and several other NGS panels will be constructed, validated and implemented in the genome diagnostic work.