Variantyx Surpasses 2500 Genomes Analyzed, Highlights the Value of Its WGS-Based Testing Methodology – Business Wire

BOSTON--(BUSINESS WIRE)--Clinicians at Variantyx, a leader in high complexity hereditary disease testing, recently completed analysis of their 2,500th patient genome. The milestone highlights the growing need for whole genome sequencing (WGS)-based tests in patient genetic diagnostics.

Variantyxs Genomic Unity tests pair the patients complete DNA sequence with proprietary data analysis algorithms and phenotype-driven filters to uniquely identify and definitively report on all major types of genetic variation within a single assay. Including genome-wide small sequence changes, structural variants, mitochondrial variants and tandem repeat expansions.

Review of the cases identified many examples of positive test results using Variantyx testing after multiple rounds of failed exome and other NGS tests.

Providing diagnoses for patients using the most comprehensive testing available is a milestone like no other and puts Variantyx at the leading edge of genomic technology. Not only are we identifying results for patients at the end of long diagnostic odysseys of years and sometimes decades, but we are also seeing the real impact of genomes being a first line test in diagnosing patients early and during a time where treatments may still be effective, said Christine Stanley, PhD, FACMG, Chief Director of Clinical Genomics at Variantyx. Our team of MDs, PhDs and Genetic Counselors are honored and humbled to lead the way in using genomes to not only identify single nucleotide variants, but, by using our sophisticated software, to also identify challenging variant types like copy number variants, short tandem repeats, Alu insertions, inversions, single exon deletions and mosaic aneuploidy. By overcoming the limitations of all other platforms used today, were providing much needed answers to patients and their families.

About Variantyx

Variantyx is a CLIA/CAP laboratory providing Genomic Unity, a whole genome sequencing (WGS)-based testing program for diagnosis of rare inherited and neurological disorders. Its single method approach to comprehensive genetic testing identifies multiple variant types within a single patient sample to provide a unified clinical report. For more information, please visit http://www.variantyx.com.

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Variantyx Surpasses 2500 Genomes Analyzed, Highlights the Value of Its WGS-Based Testing Methodology - Business Wire