Ambry to provide CLIA-approved exome services for applications in clinical diagnostics

Ambry Genetics today announces that it is the first laboratory to provide CLIA-approved exome services for applications in clinical diagnostics. After comprehensive review by Ambry's staff of geneticists and medical directors, these results will allow clinicians to diagnose affected patients with conditions that have eluded traditional diagnostic approaches.

As part of this announcement, Ambry is launching Clinical Diagnostic Exome™ sequencing, which marks the first time NextGen sequencing of the exome has been made available on a clinical basis along with clinical interpretation and classification of variant data.

Ambry, with the support of its expert bioinformatics team, is making Clinical Diagnostic Exome™ possible by developing a robust data analysis pipeline for Mendelian disease discovery. "We did not just design this application for the exome, we needed a highly sophisticated bioinformatics pipeline tailored for our medical staff so that they could make clinical interpretations," said Xiang Li PhD, head of bioinformatics at Ambry Genetics. "Creating this bioinformatics pipeline establishes Ambry Genetics as the clear leader in clinical diagnostics in the post-genomic era. It has been so much fun building this with my team and combining the intellectual and technical expertise and real-world clinical experience of everyone at Ambry."

Charles Dunlop, Founder and CEO of Ambry Genetics, also recognizes the significance of the announcement. "My entire scientific career has been in DNA sequencing—well before DNA sequencing became popular. When I started Ambry it was always a fantasy to sequence every gene in the genome, but technologies needed twelve years to develop," said Dunlop. "Today we are launching the Clinical Diagnostic Exome™ as a clinical service complete with interpretation, giving affected patients the equivalent of their own human genome project and clinicians the possibility of diagnosing complicated medical conditions. Launching this product means so very much to me as a scientist, and as a Chief Executive."