diagnosis

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ERN GENTURIS webinar: Gastrointestinal polyposis syndromes

Online , United Kingdom

Gastrointestinal polyposis syndromes In this ERN GENTURIS webinar Prof. Stefan Aretz, Professor of Genetics of Familial Tumour Syndromes and Deputy Head at the Institute of Human Genetics, University of Bonn, Germany, will be focusing on Gastrointestinal polyposis syndromes. This webinar will address state-of-the-art diagnostic algorithms and discuss present surveillance and management strategies.   Clinicians, genetic […]

NDRS Lynch Syndrome Webinar

Online , United Kingdom

  To mark Bowel Cancer Awareness month this April, the National Disease Registration Service (NDRS) has organised a webinar to showcase the first ever national Lynch syndrome database created and how it can be used.   Lynch syndrome is a genetic condition that increases the lifetime risk of bowel cancer to up to 80%. Funded […]

TSC Clinics Education Meeting 2021

Online , United Kingdom

  Tuberous Sclerosis Complex (TSC) is a rare genetic condition that affects around 1 million people worldwide.   The TSC Clinics Education Meeting is an opportunity to speak and learn from TSC Clinic professionals from across the UK. The meeting aims to encourage a consistent quality of care in TSC  and push forward our understanding […]

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.