Rare diseases

TSC Clinics Education Meeting 2021

  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 …

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Clinical cases and Michael Feiwel lecture: New treatments for patients with genetic skin diseases

This RSM webinar will explore clinical cases and present the Michael Feiwel lecture. The lecture will cover recent innovations and new treatments that dermatologists can offer patients in their own clinics.   This webinar will cover:  The diagnosis and management of some of the rarer and more unusual dermatology conditions and unusual presentations of common dermatological problems …

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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 …

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The Festival of Genomics & Biodata

Join the the UK’s largest genomics and biodata event this year online. The Festival spans everything from sample collection and preparation, through sequencing and genomic data analysis, to the integration of phenotypic and other biodata to make meaningful research and clinical decisions. The ultimate focus of the Festival is to deliver the benefits of genomics …

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Westminster Health Forum: Next steps for rare diseases and specialised commissioning

Next steps for rare diseases and specialised commissioning – policy priorities, utilising genomics, patient engagement and co-ordinating care   This online conference orgainsed by the Westminster Health Forum will discuss the key policy priorities and next steps for improving outcomes in rare diseases and specialised commissioning in England. Key areas for discussion: the UK Strategy …

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Dr Melita Irving on Genomics and Diagnostic Odysseys

Dr Melita Irving on Genomics and Diagnostic Odysseys Melita Irving is a consultant in the clinical genetics department at Guy’s and St Thomas’, which provides a regional service across south London, Kent and east Sussex. She has established multidisciplinary paediatric clinics in skeletal dysplasia and achondroplasia at the Evelina London Children’s Hospital. She has published …

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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.