Rare Disease

Genomic Laboratory Hub Services

In October 2018, the National Test Directory for Rare and Inherited Disease was published.

The National Test Directory is updated each year to ensure access to the latest diagnostics and treatments.

The Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which the tests are available, and the patients who will be eligible to access each test.

A document outlining the eligibility criteria for testing supplements the National Genomic Test Directory. It lists the clinical specialties who would be expected to request for a given clinical indication and sets out which patients should be considered for testing under that indication.

If you require access to rare disease genomic services please continue to follow local process and refer to your local GLH service.

Rare Disease Team

Ruth Charlton
Lead Scientist: Rare Disease

Jackie Cook
Clinical Lead: Rare Disease

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.

Information on the MDT process.
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