Mar 02, 2016
Diploid has launched Diagnosed, a new clinical interpretation service for rare disease diagnostics based on whole-genome sequencing data. The service, priced at $699, targets variants associated with intellectual disabilities, dysmorphisms, metabolic conditions, blindness, and deafness. If it's tools cannot identify a SNP or structural variant in the sample, Diploid will not charge for its service.
The company has also added a new tool for copy number variation detection to its portfolio that it claims is about 80x more sensitive than traditional array CGH tests and more cost-effective.