We See More in Mitochondrial Disorders

All genetic tests for mitochondrial disorders are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.

A genetic diagnosis can be life changing

An accurate genetic diagnosis enables the best possible medical management. Testing may:

  • Inform prognosis
  • Identify disorders with specific targeted treatments
  • Identify treatments to stop or avoid
  • Identify eligible clinical trials
  • Inform family planning
  • Connect families with support networks

Comprehensive testing requires analysis of both nuclear and mitochondrial genes

Mitochondrial disorders are a clinically heterogeneous group of conditions caused by dysfunction of the mitochondrial respiratory chain. Important mitochondrial mechanisms are controlled by both mitochondrial and nuclear genes. Each has its own unique testing requirements.

Mitochondrial DNA disorders

Pathogenic mitochondrial DNA variants, including small sequence changes and larger deletions, are a common cause of mitochondrial disorders1. Oftentimes the proportion of affected mitochondria within a cell is <100% (heteroplasmy).

Common panel and exome tests often exclude analysis of the mitochondrial genome or may be limited by low levels of heteroplasmy or an inability to detect larger deletions.

Nuclear mitochondrial DNA disorders

Sequence variants in nuclear genes, including small sequence changes as well as larger structural changes such as copy number variants (CNVs), can also impact mitochondrial function and cause mitochondrial disorders1.

Common panel and exome tests may be limited by the range of detection, missing smaller CNVs and complex structural variants like inversions.

Variantyx takes a unique approach to genetic testing for mitochondrial disorders

Nuclear encoded genes
Mitochondrial genome
Variant types
Variants detected by our targeted Genomic Unity® Comprehensive Mitochondrial Disorders Analysis include:

Sequence variants

Including SNVs, indels, intronic and regulatory variants in 336 nuclear genes associated with mitochondrial disorders

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs in 336 nuclear genes associated with mitochondrial disorders

Mitochondrial genome

Including mitochondrial SNVs and indels with heteroplasmy (≥5%) and large deletions

Our comprehensive analyses extend detection to >35 repeat expansion genes. View our complete mitochondrial disorders test portfolio.

More variants are revealed with greater resolution

Our whole genome platform has a detection range from 1bp to whole chromosomal events. Mitochondrial genome analysis is always available. As a result, our testing identifies variants missed by less comprehensive exome and panel tests – including mitochondrial small sequence variants (≥5% heteroplasmy) and deletions. The result is the most comprehensive testing possible, providing diagnoses for even the most elusive cases. Explore a representative example.

Heteroplasmic mitochondrial deletion diagnosis

Variantyx testing identified a pathogenic 2.3kb deletion (20% heteroplasmy) spanning the MT-ND5, MT-TH, MT-TL2 and MT-TS2 genes. The mitochondrial DNA deletion syndrome diagnosis ended a >5 year diagnostic odyssey.

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Learn more about our testing options

Genomic Unity® Comprehensive Mitochondrial Disorders Analysis

A targeted analysis of 336 nuclear genes associated with mitochondrial disorders plus the entire mitochondrial genome.

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Genomic Unity® Mitochondrial Genome Deletions Analysis

A targeted analysis of deletions within the mitochondrial genome.

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Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

A targeted analysis of 336 nuclear genes associated with mitochondrial disorders.

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Genomic Unity® Exome Plus Analysis

Comprehensive exome analysis including SNVs, CNVs, repeat expansions and mitochondrial variants.

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Genomic Unity® Whole Genome Analysis

Our most comprehensive test covering all relevant genes and variant types.

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See More With Your Mitochondrial Disorders Testing

Let’s talk about bringing the power of whole genome sequencing to your practice.

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