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The basic techniques used in diagnosing haematological malignancies include:

Morphology: This is the examination of a bone marrow aspirate under a microscope and is the first stage of evaluating a patient suspected of a haematological malignancy. This result is evaluable within minutes of a sample being taken allowing rapid evaluation for patients requiring urgent clinical intervention eg acute leukaemia. Occasionally, as in the case of myeloma, the diagnosis can be made easily without the need for further investigation of the bone marrow. Usually however further investigation of the bone marrow is required.  

Histology/Immunohistology: This is the examination of tissue that has been fixed, finely sectioned and stained. This process can be applied to any tissue but typically this is performed on bone marrow trephines and lymph nodes. In cases of Aplastic anaemia the diagnosis is clear from the greatly reduced cellularity.

Flow cytometry: This allows rapid identification (within 1hour) and quantification of subpopulations of cells in suspension through assessment of light scatter properties and antigen expression. Samples are labeled with fluorescently-tagged antibodies specific for select cell antigens. The antibodies used are tailored to specimen type, clinical history and suspected diagnosis. Our cytometers are capable of simultaneously examining up to 8 different antigens. This offers a very high level of sensitivity and allows for the identification of abnormal populations at diagnosis as well as minimal residual disease testing post therapy with the clinical information, results from morphology and flow cytometry rapid decisions can be taken on which further diagnostic investigations are required avoiding unnecessary tests and ensuring an efficient management pathway for the patient.

Applications: Immunohistochemistry is a technique for the demonstration of antigens in histological tissue sections and has the advantage of providing immunophenotypic information with preserved spatial organisation of labelled and unlabelled cells. This is critically important for example in the diagnosis of lymphomas.

Molecular diagnostics: This uses techniques such as PCR and RT-PCR have an increasing role in haematological diagnoses. These highly sensitive assays can detect abnormalities associated with specific diseases and allow in many settings the detection and monitoring of Minimal Residual Disease. Urgent results are available within 48-72 hours.  

Cytogenetics: This is an important investigation in certain settings and where appropriate samples are sent  to the regional laboratories either at Southmead Hoapital, Bristol  or  Salisbury. These investigations take approximately one week for FISH and three weeks for standard cytogenetic analysis.

· Jak 2, Mpl, Kit mutation detection in Myeloproliferative Neoplasms
· Prognostic markers in Acute Leuakaemia eg FLT-3 and NPM-1 mutations
· Qualitative detection of important chromosomal abnormalities in AML eg inv 16, t(8;21), t(15;17)and t(9;22)
· Quantitative BCR-ABL monitoring in CML and ALL
· Quantitative NPM1 monitoring in AML
· Detection of t(11;14) and t(14;18) mutations seen respectively in Mantle Cell Lymphoma and Follicular Lymphoma
· T cell and B cell clonality
· IgVH mutational analysis in CLL
· Non-malignant uses eg FVL, Prothrombin mutations, and Haemochromatosis diagnosis.