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

Sample

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.

Download Case Study