Mitochondrial - WGS
Overview
This is the most comprehensive test to identify variants in the one analysis. Whole genome sequencing (WGS) enables the identification of single nucleotide and copy number variants (CNVs) in more than 290 nuclear encoded genes, as well as genes in the mitochondrial genome.
Accurate quantitation of heteroplasmy levels of large (>1kb) mtDNA deletions is possible with this assay.
For urgent clinical cases, a RAPID turnaround time of 3 weeks is available (additional cost).
NOTE: Medicare-funded testing under MBS Item Numbers 73456 (singleton) and 73457 (trio) is now being offered at VCGS. Please see our Mitochondrial diseases page for further details.
Test type
Whole genome sequencing (WGS)
Turnaround time
3-4 months
Rapid: 3 weeks
Cost
Singleton: $4300
Rapid: +$1500