Learn how to request genomic testing for rare diseases

Learn with the experts

Are you one of the many clinicians looking to familiarise yourself with how to request genomic testing through the National Genomic Test Directory?

The National Genomics Education programme are running a free two-week online course which offers a practical guide to the genomic testing process for rare disease.

During the course, learners will develop an understanding of the different types of genomic testing for rare disease – from single gene tests to whole genome sequencing – and walk through the application of this testing in clinical practice.

What’s more, starting on Monday 15 May, learners will be joined by a team of expert mentors who will be on hand to answer questions, respond to comments and provide support across the entire run.

For more info and to get booked on click here

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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.