Whole Genome Sequencing

Rare Disease

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.

Genomic Multi-Disciplinary Team Meetings

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

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

View Directory
Genomic Laboratory Hub Services