1527 - Somatic tumour gene testing for the diagnosis of gliomas, gliobastomas, and soft tissue and bone tumours

Page last updated: 03 April 2018

Application Detail

Status

Open

Description of Medical Service

The latest World Health Organisation (WHO) classification of brain tumorus 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 Condition

Central nervous system tumours of glioma and gliobastoma subtype, and soft tissue and bone tumours.

Reason for Application

New MBS item

Medical Service Type

Investigative

Previous Application Number

Not Applicable

Associated Documentation

Application Form

Application Form (Word 202 KB)
Application Form (PDF 1011 KB)

Consultation Survey

Consultation Survey (Word 508 KB)
Consultation Survey (PDF 305 KB)

PICO Confirmation

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Assessment Report

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Public Summary Document

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Meetings for this Application

PASC

12-13 April 2018

ESC

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MSAC

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