Latest updates from the East Genomics laboratories
June 2025 - Pregnancy loss testing (R22, R318) in Cambridge
From 1st June East Genomics will implement changes in our Cambridge lab to simplify testing for pregnancy loss samples referred under clinical indications R22 or R318.
Testing will move from a two-stage process with QF-PCR used to detect common aneuploidies with a reflex microarray test when the initial result is normal, to a microarray test only for all samples.
You do not need to take any action and reports will continue to include all of the same genetic abnormalities detectable by QF-PCR as well as other clinically relevant abnormalities.
We aim to report the results of these tests within 42-days as indicated in the national genomic test directory. Urgent processing within 21-days is possible under certain circumstances.
Please contact us with any questions or concerns cuh.geneticslaboratories@nhs.net
May 2025 - Rare disease routing changes within East Genomics
If you refer samples for DNA-based testing (e.g. gene panels, microarrays, targeted tests) to our labs in Leicester or Nottingham, the reports that you receive for some rare disease tests will soon start to be issued from different East Genomics labs.
There is no need to take action, please continue to refer tests to your local East Genomics laboratory (Cambridge, Nottingham or Leicester).
These changes are the result of new routing procedures within East Genomics, which are intended to simplify and accelerate test turn around as part of our ongoing work to improve our services.
Cytogenetic (chromosome analysis and FISH) and whole genome sequencing (WGS) tests are not affected by these changes.
Changes for referrers to Leicester:
- DNA-based tests referred to Leicester will now be routed to the Cambridge lab for testing, except for diagnostic and familial inherited cancer referrals and spinal muscular atrophy tests which will continue to be routed to Nottingham.
- Leicester will continue to perform analysis and reporting for microarray tests, with the wet lab work transferred to Cambridge.
Changes for referrers to Nottingham:
- DNA-based referrals to Nottingham for specialised tests will now be managed in Nottingham rather than being sent on to Cambridge. This excludes specialised endocrine tests and WGS referrals.
April 2025 - Method update: Myeloproliferative neoplasm referrals, confirmation testing
Our Cambridge Lab have updated their methods to streamline and standardise processes for confirmation testing of variants identified from standalone assay testing for CALR (NGTD (opens in a new tab) code M85.16), JAK2 (exon 12) (M85.15) and MPL (exon 10) (M85.17) for myeloproliferative neoplasm. Confirmation tests will now be performed via next-generation sequencing, in place of Sanger sequencing. No action is required by referring clinicians.
March 2025 - Report changes for BCR::ABL1 tests (Haematological malignancies)
From 10th March 2025 a new assay will be in use at our Cambridge lab for BCR::ABL1 blood tests. This will change the way reports look for leukaemia tests M84.2, M89.13, M80.13 and M91.9. The below document includes example reports in the new format.
March 2025 - Simplification of developmental disorder testing (Rare Diseases)
We're simplifying developmental disorder testing in line with ongoing changes to the national genomic test directory. Find out about the latest changes.