Rare Genetic Disorders

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 genetic conditions. 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 preserves genomic data

Genetic disorders are caused by a wide variety of DNA changes. Comprehensive detection of all major clinically relevant variant types requires the right technology. PCR-free whole genome sequencing (WGS) generates uniform coverage of >98% of the patient’s DNA. Compare that to PCR-based panel and exome technologies that remove and skew data, generating fragmented coverage of only 1-2% of the patient’s DNA.

Pairing WGS with our Genomic Intelligence® proprietary analytical software provides the most comprehensive variant detection available.

Our rare genetic disorders portfolio

Comprehensive analyses

Genomic Unity® 2.0

The ultimate diagnostic genomic test. The patient’s genome is sequenced twice: once with short-read sequencing and once with third-generation, long-read sequencing.

Whole Genome Analysis
Exome Plus Analysis
Exome Analysis
CNV Analyses

Targeted analyses

Mitochondrial Disorders
Other Targeted Analyses
Hereditary Cancer
Custom 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.