Updated Mitochondrial Disorders Testing Increases Diagnostic Yield and Broadens Clinical Utility

• By Variantyx
• Posted in New & Updated Tests

We’re excited to share important updates to our Genomic Unity® Mitochondrial Disorders testing portfolio.

This update expands coverage to 348 nuclear encoded genes associated with mitochondrial disorders, increasing diagnostic yield and broadening clinical utility. The update includes:

• Added actionable and treatable genes: We’ve incorporated genes with direct therapeutic and clinical relevance, including GUK1, supporting timely medical management and informed patient counseling.
• Increased phenotypic and metabolic overlap: The extended analysis captures conditions that can closely mimic primary mitochondrial disease, including urea cycle disorders involving CPS1, OTC, ASS1, ASL, and ARG1 – resolving diagnostic odysseys in a single comprehensive assay.
• Incorporated Mitochondrial Medicine Society (MMS) consensus and high-demand targets: The update incorporates newly curated MMS targets and direct feedback from clinicians, including NDUFAF8 and MRPS34.

As always, our Whole Genome Sequencing (WGS) backbone detects small sequence variants, structural variants (SVs), mitochondrial variants, and repeat expansions in a single, unified workflow, delivering superior diagnostic yield where exome and gene panel approaches fall short.

Summary of testing updates:

* Note: Genomic Unity® Comprehensive Mitochondrial Disorders Analysis continues to include mitochondrial genome analysis, covering single nucleotide variants, deletions, and insertions with heteroplasmy (≥5%) and large deletions.