The national Whole Genome Sequencing (WGS) service is now available for patients that meet the eligibility for clinical indications in rare disease and cancer.
Full details can be found on the relevant National Test Directory.
If you wish to access the Whole Genome Sequencing service for your patients the links below give more information on the required process and documentation and the support available for submitting cases for testing.
Further support information can be found at Health Education England Genomics Education Programme
About the National Genomic Research Library (NGRL)
Resources and guides
Guide to Requesting WGS: Rare Disease
Guide to Requesting WGS: Cancer
In order to support the interpretation of genomic data and its integration within the clinical Multi-Disciplinary Team process a series of genomic advisory boards have been established.
These are multi-disciplinary teams who analyse the more complex genomic results which arise from testing for larger numbers of gene abnormalities.
GMT Meetings
The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.
View Directory
