Description of Medical ServiceThe latest World Health Organisation (WHO) classification of brain tumours has highlighted the critical importance of molecular diagnostic in the accurate diagnosis and proper classification of brain tumours. For some entities, molecular information is required to provide an “integrated” diagnosis and only a descriptive histological diagnosis is acceptable if no molecular diagnostic testing is available. Identification of co-deletion of chromosome 1p/19q regions is important for accurate diagnosis of oligodendroglial tumours, IDH1/2 mutations and MGMT promoter methylation add important prognostic and predictive information to the histopathological diagnosis of gliomas.
Identification of gene rearrangements, copy number aberrations and mutations is also increasingly important in the diagnosis of bone and soft tissue tumours . Important genes in this setting to be tested include beta catenin, EWSR1, SS18, FOX01, PAX3, PAX7, MDM2, FUS, DDIT3, FLI1, ERG, ETV6, NTRK3, COL1A1, PDGFB genes.
Description of Medical ConditionCentral nervous system tumours of glioma and gliobastoma subtype, and soft tissue and bone tumours.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Other Relevant Applications1709
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