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Sophia Genetics Gets CE-IVD Mark for Solution to Detect CNVs in BRCA1/2

NEW YORK (GenomeWeb) – Swiss clinical genomics analysis firm Sophia Genetics announced today it has obtained CE-IVD marking for a solution to detect copy number variations in BRCA1 and BRCA2 genes. 

The company has developed an algorithm that directly detects CNVs from next-generation sequencing data. Using the firm's data-driven medicine platform, clinicians can detect all variant types for BRCA1/2 genes in one experiment, it said. 

For the CE-IVD mark, Sophia submitted data from thousands of test results from a multicenter double-blinded study on more than 500 samples from four laboratories using an Illumina MiSeq instrument and Multiplicom's BRCA MASTR Dx kit. The results demonstrated sensitivity up to 96 percent, according to Sophia. 

In January, the Lausanne-based company obtained CE-IVD marking for its solution for use as a companion diagnostic with AstraZeneca's Lynparza (olaparib) in ovarian cancer patients.