Diagnostic Service

There are over 60 recognised subtypes of haematological malignancy. These differ in their clinical presentation, the requirement for treatment and prognosis. Some patients may require little or no active treatment and have a normal life expectancy whereas others are treated with intensive chemotherapy, radiotherapy or bone marrow transplantation. Even within individual subtypes, there is often a wide variation in the response to treatment and survival. This places a premium on accurate diagnosis, prognostic assessment and disease monitoring during and after treatment.

Historically, the diagnosis of haematological malignancies depended on the examination of cells or tissue sections by microscopy. This remains important but by itself is not sufficiently accurate or reliable for the demands of modern clinical practice. Malignant cells differ from their normal counterparts in the pattern of proteins they express and this can be studied directly using immunocytochemistry or flow cytometry or indirectly by analysis of gene expression. The cause of these differences lies in the genetic abnormalities which the tumour cells have acquired. A large number of these are now known and can be identified in clinical specimens using a variety of molecular genetic techniques. Finally, most haematological malignancies arise from a single abnormal cell and several techniques can be used to demonstrate this in patient samples.

HMDS uses all of these techniques in combinations appropriate to the clinical problem and the type of sample. Ensuring that there is internal consistency between the results obtained using various techniques is a key step in ensuring accuracy of diagnosis. Further information on the techniques HMDS utilise can be found here and details on how to send us a sample are found here.

HMDS also operate an Outreach programme which enables patients with haematological malignancies but no need for immediate treatment to be monitored from home.

The Haematological Malignancy Research Network (HMRN) collates information and statistics for clinicians and researchers interested in haematological cancers (leukaemias, lymphomas and myelomas) and related blood disorders.