Revolutionizing genomic medicine with advanced diagnostic products and services
Revolutionizing genomic medicine with advanced diagnostic products and services
Is your lab looking to quickly launch a new NGS test?
Begin issuing clinical reports under your lab’s branding for cancer predisposition and other high volume tests in a matter of weeks, not months or years. From assay design and validation studies to NGS data analysis, interpretation and clinical report sign off we can help. Find out how.
Want to solve more rare disease cases, in less time?
Variantyx Unity™ test for rare disease diagnosis is like an exome test, but better. Find out why.
Want to offer healthy patients comprehensive genomic screening?
Variantyx Wellness™ test screens for 1,000s of genetic risks in a single assay. Find out more.
Interested in a longer, healthier life with genomic testing?
Only Variantyx Wellness™ test uses whole genome sequencing (WGS) to comprehensively screen your DNA for predisposition to hereditary cancer and other diseases, carrier status and pharmacogenomic effects - all within a single assay. Find out why this matters.
News & Events
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Spotlight on Duchenne and Becker muscular dystrophies
September 19, 2018
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are related disorders that are characterized by progressive degeneration and weakening of the muscles, particularly skeletal and heart muscles.
Both are caused by oftentimes complex mutations of the DMD gene, all of which are detected by the Variantyx Unity™ test. Read this week's post to learn more ...
Spotlight on Duchenne and Becker muscular dystrophies
Read this week's post about detecting complex pathogenic variants in the DMD gene ...
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Comprehensive hereditary cancer screening: Know the sequencing technology being used
September 5, 2018
It’s important to know what mutations are covered and therefore how comprehensive a test is. When available hereditary cancer screening tests are reviewed, we find an intersection of 28 well-studied cancer predisposition genes that are covered by most if not all of the tests. Of these genes, 24 have previously described, cancer-associated del/dup mutations that are two exons or less in size. This is significant for two reasons ...
Comprehensive hereditary cancer screening: Know the sequencing technology being used
Read our recent post which discusses why this is important ...
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NGS in Medical Genetics
Thanks to all who participated in the recent NGS in Medical Genetics conference held in Sudzal, Russia!
We appreciated the opportunity to raise awareness of using clinical WGS to detect small sequence changes, structural variants, short tandem repeats and mitochondrial variants among so many individuals dedicated to providing the best diagnostics for their patients.
NGS in Medical Genetics
Thanks to all who participated in the recent conference held in Sudzal, Russia!
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Why 30X WGS beats 100X WES for variant coverage
May 16, 2018
We’re often asked why whole genome sequencing (WGS) is only performed at 30X coverage while whole exome sequencing (WES) is typically performed at 100X coverage. Doesn’t 100X provide better variant coverage than 30X? If we’re comparing apples to apples, the answer would logically be yes. But in reality we’re comparing apples to oranges, so the answer is not so intuitively no.
Here’s why ...
Why 30X WGS beats 100X WES for variant coverage
Read our recent post which discusses why this is true ...
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A clinically validated whole genome pipeline for structural variant detection and analysis
On Demand Webinar
Many benefits are inherent in whole genome sequencing (WGS) technology, including unique opportunities for detection of structural variants. Yet such analyses have generally not made their way into clinical practice.
Listen in as we describe the clinically validated WGS pipeline that we have developed for highly specific and sensitive detection of structural variants. We will discuss the combined use of breakpoint analysis, read depth ...
A clinically validated whole genome pipeline for structural variant detection and analysis
On Demand Webinar
