Ambry Genetics Launches A New Generation of Clinical Exome Sequencing

March 26, 2014

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Aliso Viejo, CA - March 26, 2014 - Ambry Genetics (“Ambry”) announces the launch of ExomeNextTM and ExomeNext-RapidTM at the American College of Medical Genetics (ACMG) conference today in Nashville. The new assays feature lower turn-around-times, lower pricing, more comprehensive coverage and a new expedited option called ExomeNext-RapidTM for severe clinical cases that require an immediate answer for clinical management purposes; for example, NICU patients whose care and outcome can be significantly impacted by rapid identification of a genetic explanation.

ExomeNextTM is offered at $5,800 list price with an 8-12 week turnaround time and the Rapid-option is offered at $15,129 list price with a 2-5 week turn-around- time, one of the fastest turn-around-times offered for comprehensive exome testing. “We’ve ramped up every area of the lab in order to handle a large number of exome samples and maintain a fast turn-around-time. The lab has undergone major increases in throughput capability with the ability to rapidly scale,” said Elizabeth Chao, M.D., Chief Medical Officer at Ambry.

Ambry was the first laboratory to offer clinical whole exome sequencing in 2011 and has optimized all components of this test including sequencing technologies, bioinformatics, candidate gene analysis, and phenotype review to achieve one of the highest diagnostic yields on the market, approximately 37%.  “One of the biggest contributors to our high diagnostic rate is our internal database of characterized and disease-causing genes which we’ve been carefully curating since the original test was launched in 2011. We have found that 23% of our positive findings are from newly characterized genes that were described within the last two years, highlighting that dependence on public databases alone is insufficient," said Sha Tang, PhD, Associate Director of Clinical Genomics at Ambry.

“Harnessing genetic technologies to improve the human condition is what Ambry Genetics is all about,” said Kelly Gonzalez, MS, CGC Senior Manager of Clinical Genomics. “Being able to offer whole exome sequencing in just 2-5 weeks for medically emergent cases is another step forward in our ongoing mission to offer the best clinical genetic testing available on the market."