Diploid announced 'Diagnosed', a new clinical interpretation service for rare disease diagnostics. The service - based on WGS-data - guarantees a genetic diagnosis in the areas of intellectual disability, dysmorphisms, metabolic conditions, blindness and deafness. If no plausible SNP or structural variant can be reported, Diploid will not charge anything for its genome interpretation work.

"Next Monday is International Rare Disease Day," says Peter Schols, Diploid’s founder and CEO. "This reminds us of the fact that millions of patients worldwide are currently undiagnosed: the genetic defect underlying their condition remains unknown. This is an enormous burden on patients and their families, and prevents effective treatment, if available. Our company’s mission is to end these diagnostic odysseys by offering hospitals and labs the ultimate diagnostic analysis."

"Sequencing labs are currently offering whole genome sequencing for $1,200 - $1,600. Combined with our $699 interpretation service, patients can now be whole genome sequenced and diagnosed for under $2,000."

In addition to its award-winning pipeline for SNP analysis, Diploid now added a cutting-edge system for copy number variation (CNV) detection based on NGS data. The new platform is about 80x more sensitive than traditional arrayCGH tests, while being more cost-effective.

Diploid focuses on genome interpretation, not on the sequencing itself, allowing hospitals and labs to submit existing WGS data for which previous analyses came back negative. Clients can upload data generated on Illumina sequencers to Diploid's HIPAA-compliant cloud platform. Within 14 business days, Diploid will return a report discussing suspected causal variants. Every report is signed by an MD with a PhD in medical genetics, as well as by a clinical geneticist. If no plausible variants can be reported, Diploid will offer the analysis for free.