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Rare disease genomics

Rare and Inherited Disease genomic testing (including inherited cancer) is offered in accordance with the National Genomic Test Directory for Rare and Inherited Disease.

Within the Directory individual tests are categorised by clinical indication within Specialist Service Groups.

Test codes are used to identify the test associated with a clinical indication and the testing methodology by which it should be delivered (these tests each have an 'R' test code number).

Tests available in Oxford are detailed on this website and the listing reflects the 'R' test code from the test Directory where appropriate.

Not all tests listed in the Directory are offered within Oxford, however pathways do exist to enable testing either within the Central and South GLH or nationally at one of the other six national GLHs.

The Oxford Genetics Laboratories will forward these samples as appropriate - please contact us for advice.


Rare and Inherited Disease Services provided by Oxford Genetics Laboratories include:

Price list

Price list for rare disease services (pdf)

Last reviewed:17 November 2022