Seminar

Skeletal Dysplasia Group Autumn Meeting 2020

Mosaic Conditions with Skeletal Involvement   Draft programme (subject to change): Thursday 26th November 2020 10.00 – 10.10   Welcome 10.10 – 10.40   Genetic overview – Nicola Foulds 10.40 – 11.20   Skin – Guest Speaker, Veronica Kinsler 11.20 – 11.50   Endocrine/Radiology – Kassim Javaid/Jo Fairhurst 11.50 – 12.20   X-linked inactivation – Sahar Mansour/Joy Barber 12.20 – …

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Skeletal Dysplasia Group Autumn Meeting 2020

Mosaic Conditions with Skeletal Involvement   Draft programme (subject to change): Thursday 26th November 2020 10.00 – 10.10   Welcome 10.10 – 10.40   Genetic overview – Nicola Foulds 10.40 – 11.20   Skin – Guest Speaker, Veronica Kinsler 11.20 – 11.50   Endocrine/Radiology – Kassim Javaid/Jo Fairhurst 11.50 – 12.20   X-linked inactivation – Sahar Mansour/Joy Barber 12.20 – …

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RARESUMMIT19

RARESUMMIT19 RARESUMMIT19 is a 1 day summit focusing on patient-centricity in Rare Disease progress   The aims of RAREsummit19 to highlight exemplars of patient involvement to provide a toolkit of practical strategies to help educate, inspire and empower all rare disease stakeholders to give stakeholders the knowledge and skills to ensure their practices involve patients …

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Webinar: Utilization of Multiple Molecular Testing Methodologies to Aid in Lung Cancer Patient Management

In the last few years several molecular testing methodologies — such as immunohistochemistry, PCR, and sequencing — have been approved by the US Food and Drug Administration to aid in the management of patients with lung cancer. In this webinar you’ll learn how these very different technologies serve specific needs and how creating a testing …

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Webinar: Validation and Internal QC of Clinical NGS to Support an Accredited Diagnostic Workflow

Speaker: Dr. Kevin Balbi Head of Bioinformatics Sarah Cannon Molecular Diagnostics   In this webinar, Kevin Balbi, head of bioinformatics at Sarah Cannon Molecular Diagnostics, will discuss the validation of targeted sequencing panels on the Ion Torrent platform using Horizon Discovery’s Tru-Q controls. He will also discuss how those controls are being used for ongoing …

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Genomic Medicine Lunch & Learn

Are you an NHS professional looking to advance your skills in Genomics?   Join us on Tuesday 26 June or Wednesday 27 June to find out more about our postgraduate courses and modules in Genomic Medicine at our informal Lunch and Learn talks. Our Genomics course follows a curriculum designed by Health Education England and …

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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.