East Genomics

Mobile menu open

Rare disease tests - non WGS

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:

Urgent advice: Recent changes to the national genomic test directory

Visit our updates page for details of the latest pertinent changes to the national genomic test directory.

Recent changes include:

  • Removal of fragile X testing
  • Simplification of prenatal testing
  • Changes to sickle cell tests

Updates to eligibility criteria are made frequently. Please always check the national genomic test directory before referring patients.

Test order form

Record of Discussion form