This page provides order forms and record of discussion forms to be used when requesting any test that does not use the "WGS" Test Method in the national genomic test directory.
Tests not available through East Genomics
Certain tests should be requested directly from other regional genomic medicine services. These are:
- R14 for acutely unwell children - how to order R14
- R454 for prescription of mavacamten - how to order R454
Urgent advice: MAR 2025: Fragile X and developmental disorder referrals
Following the latest updates to the national genomic test directory for rare diseases. We can no longer accept referrals for Fragile X testing (R53).
We are also simplifying testing for developmental disorders (R27, R28, R29, R377). Click here for the latest changes and referral guidance.
For details on other directory changes visit our updates page.