Test & specimen information
Mitochondrial - nuclear DNA
Overview
Variants in more than 290 different nuclear genes can cause mitochondrial disease. Clinical exome or whole genome sequencing will typically be the appropriate choice for nuclear gene testing.
Depending on the clinical suspicion, analysis may focus on a panel comprising >290 known nuclear-encoded mitochondrial disease genes, or, for some nuclear genes with distinct genotype/phenotype correlations, a targeted analysis with POLG and SURF1 genes may be considered.
Test type
Exome sequencing
Whole genome sequencing (WGS)
Panels tested
Turnaround time
3-4 months