What is this test?
Whole mitochondrial genome (mtDNA) sequencing.
When is this test recommended?
Suspected neuropathy, myopathy, metabolic defects or optic atrophy.
Sample type
Blood, muscle or relevant affected tissue.
Results
mtDNA variants and heteroplasmy levels.
Limitations
Interpreting heteroplasmy and tissue specificity is complex.
Turnaround time
To Be Added
Required documents
To Be Added
Related diseases
MELAS, MERRF, LHON and other mitochondrial disorders.