Revolutionizing genetic testing for rare disease patients
While traditional tests detect only certain types of changes in an individual's DNA, whole genome testing has the ability to detect nearly all known and potential disease-causing changes with a single test. It provides the most comprehensive testing option for patients currently stuck in a diagnostic odyssey. As well as for patients who are new to genetic testing.
Now is the right time to embrace clinical whole genome testing
The advantages of whole genome testing
Better coverage of exonic variants
Because the entire genome is sequenced without relying on PCR amplification, WGS produces a consistent read depth. This dramatically reduces the number of low coverage areas that can lead to missed exonic variant calls in other types of testing.
Detection of additional variant types
WGS’s consistent read depth makes it possible to detect small sequence changes, structural variants, tandem repeat expansions and mitochondrial variants all within a single assay. Including known disease-causing variants in non-coding regions.
Ability to rerun analyses, without resequencing
Because the DNA regions of interest are not predetermined, WGS data can be stored and reanalyzed at any time. Without collecting another sample, performing another sequencing run or undertaking another genetic test.
Variants detected and analyzed by Genomic Unity™
|Small indels (<50bp)|
|Structural variants (≥50bp):
|Mitochondrial variants (≥4% heteroplasmy)|
|Tandem repeat expansions|
Variantyx reports on variants related to the reason(s) for testing. In some instances, such as when a phenotype-relevant variant or gene is associated with multiple disorders, incidental findings may be identified and reported. In addition to phenotype-driven analysis, patients may opt-in to receive pathogenic and likely pathogenic findings in the set of 59 medically actionable genes recommended by the American College of Medical Genetics (ACMG) for secondary/incidental findings.
Suspected diagnoses compatible with testing
Congenital heart defects and cardiomyopathies
Ophthalmology and hearing loss disorders
Sex development disorders