diagnosis

It seems we can’t find what you’re looking for. Perhaps searching can help.

Recurring

National workshop: From diagnosis of cancer to diagnosis of Lynch syndrome

Online , United Kingdom

  Workshops focused around the roles and responsibilities of local cancer MDT members in the Lynch syndrome testing pathway.   Lynch syndrome (LS) is an inherited condition caused by pathogenic variants in DNA genes which result in an increased risk of colorectal, endometrial, and other cancers. Increases risk of developing bowel cancer to up to 80% […]

Westminster Health Forum: Priorities for rare disease research, diagnosis, and care in the UK

Online , United Kingdom

This online Westminster Health Forum conference will discuss the next steps for rare diseases policy in the UK. Delegates will assess: the Rare Diseases Framework -  priorities going forward if its ambitions are to be delivered, as well as progress during it first year the impact of the pandemic the role of genomics in improving diagnosis […]

What does genomics mean for families? – iHV webinar series

Online , United Kingdom

The second in the “What does genomics mean for health visitors?” webinar series from the Institute of Health Visiting (iHV) and Genomics Education Programme (GEP). Highlights include. The importance of family history with practical tips and tools for asking about and recording family history including consideration of family dynamics, paternity, consanguinity, ethnicity, IVF, and reproductive […]

Monogenic Diabetes Virtual Training Course

Online , United Kingdom

This funded two day virtual course on Monogenic Diabetes is aimed at consultants, SpRs and experienced DSNs, and is designed to help busy clinicians recognise and treat patients with MODY and other forms of monogenic diabetes. It will focus on the current practices and new developments in the management of monogenic diabetes. Highlights include: Strategies […]

Lunch and Learn: Think Patient Care, Think Genomics

Online , United Kingdom

Session One: Cystic Fibrosis screening and diagnosis Join us for our first edition of Lunch and learn, a session for nurses and midwives focused on Cystic Fibrosis. Speakers and topics covered:   Carrier testing Cathryn Moss, Principle Genetic Counsellor, St George’s Hospital This session will offer nurses and midwives a practical guide to Cystic Fibrosis […]

Lunch and Learn: Think Patient Care, Think Genomics

Online , United Kingdom

Session Two: Monogenic Diabetes in pregnancy Join us for our second edition of Lunch and learn, a session for nurses and midwives focused on Monogenic Diabetes.   Monogenic diabetes is a rare form of diabetes caused by a mutation in a single gene and can often be misdiagnosed as type 1 diabetes. Accurate diagnosis and […]

Lunch and Learn: Think Patient Care, Think Genomics

Online , United Kingdom

Session Three: Lynch Syndrome Join us for our third edition of Lunch and learn, a series of webinars for nurses and midwives to gain insight into how genomic testing is used across different areas of healthcare. Professionals will share their expertise of genomic tests available for patients through different patient pathways.   Speakers and topics […]

Recurring

National pathology workshops: Lynch Syndrome

Online , United Kingdom

Lynch syndrome (LS) is an inherited condition caused by pathogenic variants in DNA genes which result in an increased risk of colorectal, endometrial, and other cancers. LS affects approximately 1 in 300-1 in 400 people, with 200,000-300,000 people likely to have this condition in the UK. It is estimated that only 5% of people with […]

Recurring

National pathology workshops: Lynch Syndrome

Online , United Kingdom

Lynch syndrome (LS) is an inherited condition caused by pathogenic variants in DNA genes which result in an increased risk of colorectal, endometrial, and other cancers. LS affects approximately 1 in 300-1 in 400 people, with 200,000-300,000 people likely to have this condition in the UK. It is estimated that only 5% of people with […]

Lunch and Learn: Think Patient Care, Think Genomics

Online , United Kingdom

Session Fifth: Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is a genetic condition affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). During this session we will hear from professionals in the field on SMA management, genetic testing, and treatments available as well as hearing from a patient advocate. Agenda: […]

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.