1684 – Genetic testing for variants associated with haematological malignancies

Page last updated: 09 March 2023

Application Detail

Description of Medical Service

The 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 Condition

Haematological malignancies are the result of the clonal expansion of cells throughout the blood forming organs. They are a heterogeneous, geneiag tically 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 Application

New MBS item

Medical Service Type

Investigative technology

Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 1923 KB)
Application Form (Word 2596 KB)

Consultation Survey

Consultation Survey (PDF 690 KB)
Consultation Survey (Word 72 KB)

PASC Consultation
PASC consultation closed

MSAC Consultation
MSAC consultation input closed Friday, 7 October 2022.

For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process

PICO Confirmation

PICO Confirmation (PDF 2016 KB)
PICO Confirmation (Word 540 KB)

Assessment Report


Public Summary Document

Public Summary Document (PDF 976 KB)
Public Summary Document (Word 574 KB)

Meetings for this Application


9-10 December 2021


6-7 October 2022


24-25 November 2022