Rare disease genomics

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.

Quick, concise information to help healthcare professionals make the right genomic decisions at each stage of a clinical pathway is available - see GeNotes (provided by Genomics Education Programme).

Services

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

• Cardiology
• Cystic fibrosis
• Disorders of sex development - see cytogenetics
• Developmental delay / intellectual disability and congenital abnormalities - see cytogenetics
• Endocrine disorders
• Eye disorders
• Inherited cancers
• Lipids: Familial hypercholesterolaemia
• Mitochondrial disorders
• Musculoskeletal disorders
• Neurology and neuromuscular
• Non-malignant haematology
• Reproductive cytogenetics, including prenatal testing - see cytogenetics
• Zygosity testing

Price list

Price list for rare disease services (pdf)