Our Leicester lab has recently started to offer a targeted genetic test in acute myeloid leukaemia (AML). By offering this testing locally, the team hopes more results can be returned sooner, helping patients that can benefit to access targeted treatments.
The test can be used to identify a specific genetic alteration which, if present, means that the patient could respond well to a recently approved targeted therapy (opens in a new tab) for AML. In a situation where time is of the essence, access to these test results can be vital for patient care.
Leukaemia can progress quickly and aggressively, and immediate treatment can make a significant difference to patient health and quality of life. Targeted therapy is available for AML patients who have variations in the IDH1 gene.
The new test means that bone marrow samples from patients with AML can be tested in Leicester, without needing to be sent away to our Cambridge laboratory. The hope is that local processing will mean results can be returned to patients more quickly. The NHS target for this test nationally is for results to be returned within seven days.
The launch of molecular testing locally has improved turnaround times, which means we can start eligible patients on personalised and targeted AML treatment quicker, improving remission rates and survival for these patients.
The whole leukaemia team are very grateful for this service, which has helped to improve the care we deliver to our patients.
Dr Anna Tsoulkani, UHL consultant haematologist
The test became available in Leicester in May 2025 and 46 patients have been tested so far. Of these, four benefitted from the targeted therapy.
The successful rollout of this test is a great example of how our service is constantly developing. Genetic testing within the NHS is evolving rapidly. There are always new trials and treatments being approved for genetic variants, so our small team has to constantly adapt to changes to testing and patient eligibility.
I’m really proud of the whole team for working hard to deliver timely results that are improving the lives of patients.
Lara Cresswell, head of the Leicester lab and consultant clinical scientist
The Leicester lab is located in the Leicestershire Genetics Centre at Leicester Royal Infirmary. The team deliver many different tests as part of East Genomics. The lab handles around 5,500 specimens per year on behalf of East Genomics, across rare disease and cancer genomic testing.
Following an announcement in December (opens in a new tab) of over £50 million investment for University Hospitals Leicester NHS Trust , the Leicester lab is looking forward to moving to a state-of-the-art new location, which is expected to open in 2028.
Note for ordering clinicians
The new method available in the Leicester lab allows them to conduct several tests from the national genomic test directory in-house. This includes tests for AML (M80.2 and M80.23) as well as myelodisplasia (M82.1) and myeloproliferative neoplasm (M85.2).
Generally, patients need to start treatment within a week of receiving a diagnosis of AML, and so if this specific genetic variation is not identified in time, the patient would be started on a non-specific treatment, which may not be as effective. But if we can find the variant in the IDH1 gene, they can access personalised therapy.
This is just one of many different genetic tests that we process in our laboratory which help patients to receive the most effective care.
Paul Warman, deputy head of UHL’s cytogenetics service