Rare diseases

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 …

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Genomics of Rare Disease Conference

Genomics of Rare Disease

Wellcome Genome Campus is holding a 3 day conference on rare disease, presenting a blend of genomic science and clinical medicine. The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital …

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Beth Coad- NEWS

#GenomicsConversation spotlight on… Genetic Counselling and Genomics

Spotlight on…Genetic Counselling #GenomicsConversation Genetic Counselling and Genomics This week is the national #GenomicsConversation week of action, part of a campaign launched by the Genomics Education Programme (GEP) to dispel the myths, explain the facts and outline the clinical impact of genomics. At South East we will be sharing a series of interviews with different health …

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South East Genomics

Welcome to our new home

We have recently changed our name from the NHS London South Genomic Laboratory Hub to the NHS South East Genomic Laboratory HubWe think it better reflects the region we cover!

Hello! Welcome to the South East GLH website. The site is not fully supported in older versions of Internet Explorer. To get the best experience, we recommend that you use Google Chrome or Firefox to browse the site.

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.