spinal muscular atrophy

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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.