EuroGentest Guidelines for Diagnostic Next Generation Sequencing (copy 1)


We have been drafting guidelines for diagnostic NGS. This was an initiative, taken in the context of EuroGentest but many other colleagues have contributed to the discussions and the final document.

We now invite the EuroGentest members and other interested professionals to comment on the guidelines. The final draft is available here. You can also find them on the ESHG website. After integration of the suggestions, the document will be sent to the ESHG Board for endorsement. Indeed, EuroGentest has recently been integrated with the ESHG, and we are happy to be able to continue to work together.

Your comments are welcome until December 14 and can be sent by email to Erika Souche(Erika.Souche(at) and cc to Peter Bauer (peter.bauer(at)



Click here to download the actual version of the NGS Guidelines.

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