Ambry publishes data on high detection rates for their clinical exome sequencing assay

November 13, 2014

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Aliso Viejo, Calif., November 13, 2014

Ambry Genetics announces the publication of its clinical exome sequencing cohort data, released November 13, 2014 in Genetics in Medicine, the official peer-reviewed journal of the American College of Medical Genetics and Genomics. This marks the announcement of the highest detection rate for clinical exome sequencing available on the commercial market today.

“We are very excited to share our clinical data that supports a 39% detection rate in patients tested with diagnostic exome sequencing in our laboratory,” said Sha Tang, PhD, Associated Director of Clinical Genomics at Ambry. “Other laboratories have published their data in the past year as well, but our detection rates are the most competitive on the market right now.”

Ambry’s clinical exome sequencing test, called ExomeNext^TM, is a family-based genomic test that analyzes both characterized and novel (previously unidentified) genes. According to the GIM publication, characterized genes account for 30% of positive patients in the cohort. The remaining 7% were found to have changes in novel genes, findings subsequently corroborated by other peer-reviewed publications since 2011. The GIM publication’s data also highlights the fact that exome sequencing is also a very powerful tool to identify underlying diagnoses in patients with inherited neurological conditions.

“Trio testing [of an individual and his/her parents] is a really important element of exome sequencing, as it definitely impacts the detection rate for families. It gives them a better chance of finding an answer for their undiagnosed condition,” said Kelly Farwell, MS, CGC, Senior Manager of Clinical Genomics at Ambry. “ExomeNext is unique because we are the only lab that offers trio testing and family study analyses as part of the same price and turnaround time, optimizing the detection rate from the beginning.”

ExomeNext is currently covered by many insurance companies and averages an 8 week turnaround time for the main test, and a 3 week turnaround time for the quicker/medically urgent option (ExomeNext-Rapid^TM). Both tests include trio samples, comprehensive and clear results interpretation, additional family member analysis, as well as mitochondrial DNA (mtDNA) analysis.