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Oxford University Hospitals NHS Foundation Trust

Alert Coronavirus / COVID-19

If you have a new continuous cough, a high temperature, or a loss or change to your sense of taste or smell, do not come to our hospitals. Follow the national advice on coronavirus (COVID-19).

Please find information on our services and visiting restrictions in our COVID-19 section.

Patients and visitors must wear a face covering in our hospitals.

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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.

Services

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

Price list

Prices are changing from April 2021. A price list for rare disease services from April 2021 (pdf) is available.