National Genomics Test Directory
From 1st April 2020, there will be a new National Genomic Test Directory listing the different tests you will be able to order across the spectrum of rare disease. Details of the tests available for rare and inherited disease are available here.
You will be ordering tests by virtue of the clinical indication as defined in the Directory. Each clinical indication has an “R” number e.g. R58 and this code will need to be included when you are requesting the test; however it is also essential that you include any further pertinent clinical information in order to help inform the laboratory analysis. This document described all tests included in the laboratory analysis for that indication (eg. R58.1, R58.2 and R58.3).
You may find a test that you have previously ordered has a different name in the test directory. Please contact the laboratory if you need further information.
For each test within the test directory you will find listed along with the code the clinical indication, testing criteria, list of specialists who may request the test and where in the diagnostic pathway it should be requested.
Genomic testing with multiple genes
For genomic testing where multiple genes are tested in parallel, NHS England have deployed the PanelApp tool to ensure that panels have an agreed set of curated genes and that this content is supported by scientific evidence. To check which specific genes are included in a test covered by the national genomic test directory please use the PanelApp tool here.
Using this tool, you can search using the national test directory code or the name of the panel (e.g. Primary immunodeficiency).
As the 7 Genomic Laboratory Hubs will operate as a national network, the laboratory that will carry out a specific test may be different than the current arrangements. However, in most cases, the laboratory that you send your samples to will not change. If testing is carried out elsewhere then your local GLH will forward the sample on.