Description of Medical ServiceThe most widely used technique for the molecular diagnosis of haematological malignancies is targeted next generation sequencing (NGS) panels (lymphoid or myeloid) focusing on specific genes as described by the World Health Organisation (WHO). The results of these genomic tests are then interpreted with the rest of the pathological data of the patient to categorise the patient as per WHO 2017 diagnostic criteria.
Description of Medical ConditionHaematological malignancies are the result of the clonal expansion of cells throughout the blood forming organs. They are a heterogeneous, genetically diverse group of disorders that originate from cells of the bone marrow and lymphatic system, and are categorised based on lineage as either myeloid or lymphoid neoplasms. The majority of human haematologic malignancies are caused by the clonal expansion of a single cell that has acquired a somatic variant in one allele of a gene responsible for cellular maturation and division. Haematologic malignancy is a relatively common group of disorders, constituting approximately nine per cent of all cancer cases diagnosed annually.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative technology
Previous Application Number/sNot Applicable
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