The forms provided on this page should be used to request the majority of tests for rare diseases
If you are have not ordered a genomic test before or need further information please refer to our main page for rare disease tests.
Certain tests can be submitted for urgent processing where certain criteria are met. Find out how to request urgent testing.
Non-urgent advice: Whole genome sequencing tests
If you require whole genome sequencing (WGS) please use our Rare Diseases WGS form instead.
Non-urgent advice: IMPORTANT: Rare disease tests not handled by East Genomics (R14, R454)
For certain tests, you will need to send samples directly to laboratories outside of the East Genomics region for testing.
R14 test for acutely unwell children
Testing is performed in Exeter by the South West GLH. Find out how to order test R14.
R454 test for treating symptomatic obstructive hypertrophic cardiomyopathy with Mavacamten
Testing is performed in Bristol by the South West GLH. Find out how to order a test. Find out how to order test R454.
Non-urgent advice: Jan 2025: Test directory update
Please ensure you check the latest version of the national genomic test directory before ordering a test.
The update on the 2nd Jan 2025 includes the addition of test R454 (to be ordered via the South West GLH), changes to R27, R28, R56, R58, R137, R176 and R297, and removal of R53 and of R59.2, R69.3, R83.2, R84.2, R86.2, R87.2, R88.2, R89.2 and R100.2 where WGS alternatives are available.