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ERN GENTURIS webinar: From Li-Fraumeni to heritable TP53-related cancer syndromes

October 14 2020 @ 2:00 PM - 3:00 PM

ERN GENTURIS webinar: Pheochromocytoma and paraganglioma

From Li-Fraumeni to heritable TP53-related cancer syndromes

In this ERN GENTURIS webinar Prof. Thierry Frebourg, head of the department of genetics of the Rouen University Hospital, will focus on Li-Fraumeni and heritable TP53-related cancer syndromes. He will discuss which patients should be tested for TP53, how germline TP53 variants should be interpreted and what the medical consequences of germline TP53 variants are. Also, the type of medical follow-up that should be offered to germline TP53 variant carriers will be discussed.


Clinicians, genetic counsellors, clinical scientists and other genetics health professionals are invited to join.


Book your place on the upcoming webinar via the registration page.


October 14 2020
2:00 PM - 3:00 PM
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United Kingdom
With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.