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.

Please refer to this page before filling out a test request form.

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.