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 itemMedical Service Type
Investigative technologyPrevious Application Number/s
Not ApplicableAssociated Documentation
Application Form
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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
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Assessment Report
-Public Summary Document
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