Now is the right time to switch to 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.
The most comprehensive variant detection available
Variantyx Unity™ detects
|Small indels (<50bp)|
|Structural variants (≥50bp)|
|Mitochondrial variants (≥2% heteroplasmy)|
|Tandem repeat expansions|
Only variants related to the reason(s) for testing, or that fall within genes evaluated for their association with the reason(s) for testing, are reported, unless the patient has opted-in to receive incidental findings. When opted-in, we only report incidental findings within the 59 actionable genes recommended by ACMG, and only if the variants are classified as pathogenic or likely pathogenic.