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Accelerating the Identification of Genetic Diseases

October 19 2020 @ 4:00 PM - 5:00 PM

Join Clinical Scientist, Helen Savage DipRCPath, Deputy Head of Clinical Services at Congenica as she presents how new advances in technology will now enable complex genomic data interpretation that would typically take more than 10-hours, in as little as 5-minutes – including classification, evidence and reporting.

In this webinar you will learn:

  • How to maximize case throughput using your own curated variant lists
  • Methods to reliably automate genomic analysis with confidence and transparency
  • How to interpret a case in as little as 5 minutes, without any manual processing

Visit the event page for further information and to register.

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.