Disorders of mitochondrial energy generation can be caused by primary mutations in mitochondrial DNA (point mutations and single deletions) and secondary mutations in mitochondrial DNA (multiple deletions or depletion of mitochondrial DNA) caused by nuclear gene disorders. The range of testing offered by VCGS now includes whole mitochondrial DNA (mtDNA) genome sequencing, which will screen for single nucleotide variants and large deletions using next generation sequencing (NGS).
10 - 16 weeks
EDTA blood: Adult: 1 x 4 ml, Child: 1-2 ml (do not freeze. Store at 4°C or room temperature).
Liver/Muscle: 1-5mg tissue samples must be stored at -70°C (-20°C is inadequate) until transport on dry ice. Once frozen, they must not be allowed to thaw.
A significant consideration with testing for mitochondrial DNA mutations is that some mutations can be absent from samples such as blood and saliva. For example, muscle or liver biopsies may be the most appropriate sample for testing mitochondrial DNA deletions.