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
[email protected]

Jackie Cook
Clinical Lead, Rare Disease
[email protected]


Ciaron McAnulty
[email protected]


Richard Kirk
[email protected]


Andrea Coates
[email protected]