Requesting Rare Disease Tests

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Requesting a test 

All requests for single gene and panel tests should be made using our standard test request forms. The form should be filled in completely paying special attention to the R code of the test and the including full phenotypic details of the patient and family history details where relevant.

Whole Genome Sequencing

Over time, testing for some indications will move to whole genome sequencing (WGS). This will require a separate request form and consent form (Record of Discussion of Patient Choice). Further details will be added to this website as WGS is introduced for the different specialties.