Rare diseases

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

Virtual Cancer Genetics Course 20/21

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of …

Virtual Cancer Genetics Course 20/21 Read More »

ERN GENTURIS webinar: Pheochromocytoma and paraganglioma

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

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 …

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

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.