Targeted Analyses

We are setting the standard

At Variantyx, we are setting the standard of genome analysis. We are leading the way by offering the most comprehensive diagnostic testing clinically available for a variety of defined disorders. With thorough interrogation of the genome, we have the ability to detect all major clinically relevant variant types from one sample. A single, unified clinical report is generated through phenotype-driven variant evaluation performed by clinical experts.

Using our methodology’s superior analytical and clinical validity, we are providing better overall performance, diagnostic yield and speed of diagnosis. All at lower overall cost.

Our methodology detects unique targeted variants

The targeted disorders we focus on are caused by a wide variety of DNA changes. Many of these, specifically complex structural variants, mitochondrial variants, and tandem repeat expansions, are not detectable by PCR-based panel and exome technologies. This often leads to false negative results and non-diagnostic outcomes.

Pairing WGS with our Genomic Intelligence® proprietary analytical software allows us to detect mitochondrial variants (including large deletions), structural variants of any size, and repeat expansions in 37 different genes – more genes than any other provider.

Explore repeat expansions analyzed

Our targeted analysis portfolio

Neurology disorders

Genomic Unity® Comprehensive Ataxia Analysis

Our most comprehensive ataxia test includes repeat expansion analysis of 17 genes – more than any other available test. Including recently associated FGF14, RFC1 and ZFHX3 genes.

Ataxia Repeat Expansion Analysis
Dementia Analysis
Epilepsy Analysis
Motor Neuron Disorders Analysis
Movement Disorders Analysis
Muscular Dystrophy Analysis
Neuromuscular Disorders Analysis
Neuropathies Analysis
X-linked Intellectual Disability Plus Analysis

Mitochondrial disorders

Genomic Unity® Comprehensive Mitochondrial Disorders Analysis

Our most comprehensive mitochondrial disorders test combines small sequence and structural variant analysis of nuclear mitochondrial genes with full mitochondrial genome analysis.

Mitochondrial Genome Sequence Analysis
Mitochondrial Genome Deletions Analysis
Nuclear Encoded Mitochondrial Gene Analysis

Other targeted analyses

Endocrinology Analysis
Hearing Loss Disorders Analysis
Nephrology Disorders Analysis
Retinal Disorders Analysis

Flexible reflex options facilitate first-line testing

First-line testing with Genomic Unity® is the fastest way to reach a clear diagnostic outcome.

Every test is performed on our whole genome platform. Available automatic reflex options enable starting with targeted, insurance-covered testing followed by a full, comprehensive analysis in the event the first test is non-diagnostic.

Learn more about our billing options.