Expanding access to chromosome analysis and improving reporting

The below outlines the expected changes and what they mean for test ordering. To stay up to date with changes to the national genomic test directory, please sign up here.

By making the reasons for testing clearer and including new requesting specialisms, this change aims to ensure tests are available to more patients and provide more clinically relevant results.

Replacing possible structural chromosomal rearrangement (R297)

Following the next NGTD update, please use the new codes to order testing. Full eligibility criteria for each test are included in the national genomic test directory (opens in a new tab). The new tests are:

• Relevant for patient (proband testing):
  • R463 Cytogenetic characterisation of a genomic abnormality
  • R465 Familial cytogenetic rearrangement
  • R468 Possible sex chromosome aneuploidy or structural rearrangement
• Relevant to fertility:
  • R464 Recurrent miscarriage where products of conception are not available for testing (R464)
  • R466 Unexplained infertility*
  • R467 Gamete donors

_{*Requests related to premature ovarian insufficiency should use the R402 clinical indication code instead, which includes Karyotyping and FMR1 testing.}

All of the new tests will make use of the same methodology (karyotyping/targeted chromosomal analysis) as R297 and will provide comparable results presented in a familiar format.

In the short term, where sufficient clinical information is provided, we will automatically reassign orders for R297 to the most appropriate of the new clinical indications. Where this is not possible, we will contact you for guidance.

Please consult the national genomic test directory and eligibility criteria before ordering and include on the order form details of how your patient meets the eligibility criteria for testing.

Additional requesting specialties

The new test codes cover a wider range of requesting specialties. This will help to ensure appropriate testing is available for eligible patients. Requesting a specific test and providing detailed clinical information guides our analysis and reporting, helping us to provide more meaningful interpretation of results.

_{* specialties not previously able to order R297}

These changes will be part of a wider update to the national genomic test directory.

If you have any questions, please contact us.