Applications

1675 – Whole Genome Sequencing for the diagnosis of mitochondrial disease

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Complete
  • Type New application
  • Pre-PASC consultation Closed
  • Pre-MSAC consultation Closed
  • Outcome Supported

Application details

Reason for application

New MBS item.

Service or technology in this application

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.

Type: Investigative technology

Medical condition this application addresses

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.

Consultation survey and deadlines

  • PASC consultation: Closed
  • MSAC consultation: Closed Friday 7 October 2022

Meetings to consider this application

  • PASC meeting: 9 to 10 December 2021
  • ESC meeting: 6 to 7 October 2022
  • MSAC meeting: 24 to 25 November 2022