Mitochondrial diseases
Overview
Genetic testing is now the first-line testing for mitochondrial diseases. It can provide an early and accurate diagnosis, avoiding muscle biopsies, and enables screening for family members and reproductive partners. VCGS now offers Medicare-funded Whole Genome Sequencing (WGS) which includes analysis of mitochondrial genome (mtDNA) for MBS Item Numbers 73456 (singleton) and 73457 (trio).
Analysis of WGS data includes the detection of deletions or duplications, also known as copy number variants (CNV).
To qualify for the Medicare rebate, these tests must be ordered by a specialist physician and meet the Medicare Benefits Schedule (MBS) inclusion criteria (see below).
Test type
Whole genome sequencing (WGS)
Turnaround time
Trio: 8-10 weeks
Singleton: 3-4 months
Cost
Bulk billed where eligible.