Please note that, from the week commencing Monday 5 September 2022, and in keeping with its removal from the National Genomic Test Directory, the standalone assay for CEBPA variant analysis in AML cases will be discontinued and will be unavailable for requesting.
In its place, CEBPA will be assessed and reported solely using the Haem Onc Next Generation Sequencing (NGS) panel, which is routinely performed on AML cases.
Internal validation has demonstrated 100% concordance between the CEBPA variants identified by the standalone assay and those identified by NGS. Furthermore, due to the more sensitive limit of detection of the NGS assay in comparison to the standalone Sanger-based sequencing approach, we have routinely detected CEBPA variants using the NGS panel which had not been identified using the standalone method.
This has allowed for more accurate AML sub-classification and supports the retirement of the standalone assay.