Description of Medical ServiceWhole 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 ConditionMitochondria 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 ApplicationNew MBS item
Medical Service TypeInvestigative technology
Previous Application Number/sNot Applicable
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