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Genomics for Dermatology Virtual Course

November 25 - November 27
Online United Kingdom

This course is designed to provide an introduction to human genetics and the genomic approaches used currently to understand disease mechanisms for those working in dermatology and skin biology. Topics will include: Introduction to genetics and genomics Variation in the human genome Epigenetics Monogenic skin diseases Bioinformatic approaches to GWAS datasets State-of-the-art technologies such as …

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1:30 pm

Skeletal Dysplasia Group Autumn Meeting 2020

November 27 @ 1:30 pm - 5:00 pm
|Recurring Event (See all)

One event on November 27 2020 at 1:30 pm

Online United Kingdom

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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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.