Latest updates from the East Genomics laboratories
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.