1675 – Whole Genome Sequencing for the diagnosis of mitochondrial disease

Page last updated: 22 February 2023

Application Detail

Description of Medical Service

Whole genome sequencing (WGS) is a genetic test that sequences genes in both mitochondrial (mtDNA) and nuclear genome (nDNA) in a single test. Once Mitochondrial Disease (MD) is suspected a request for WGS would be made. The WGS results are then examined, looking for variants in genes known to be associated with MD.

Description of Medical Condition

Mitochondria are known as the ‘powerhouse of the cell’. They are responsible for producing energy that the cells can use. Mitochondrial disease (MD) limits the ability for the mitochondria to produce energy and is caused by genetic variations (faults) in the genes that make up the mitochondria. Given mitochondria exist in cells all over the body there are hundreds of different types of MD, depending on the severity, location and number of mitochondria affected. This means MD has varying effects and on the functioning of the body and therefore presents differently among affected individuals. MD is often a debilitating disease and potentially fatal, resulting in poor mobility, coordination, weakness and fatigue.

Reason for Application

New MBS item

Medical Service Type

Investigative technology

Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 1955 KB)
Application Form (Word 1815 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 2579 KB)
PICO Confirmation (Word 1203 KB)

Assessment Report


Public Summary Document

Public Summary Document (PDF 931 KB)
Public Summary Document (Word 189 KB)

Meetings for this Application


9-10 December 2021


6-7 October 2022


24-25 November 2022