Laboratory Provides Exome Sequencing Services for Clinical Diagnostics Applications

Clinical Diagnostic Exome sequencing is available on a clinical basis along with clinical interpretation and classification of variant data.

The Clinical Laboratory Improvement Amendments (CLIA)-approved exome services will enable clinicians to diagnose patients with conditions that have eluded traditional diagnostic approaches.

The Clinical Diagnostic Exome provides sequencing of the most important functional regions of the genome that harbor the majority of known disease causing mutations. For patients with undiagnosed or difficult to diagnose genetic disorders, this product is capable of providing clinically relevant answers.

Sequencing and interpretation of greater than 50 Mb of sequence per patient is a huge undertaking that relies heavily on Ambry's state-of-the-art bioinformatics and sequencing capabilities.

Ambry Genetics (Aliso Viejo, CA, USA) with the support of its bioinformatics team is making the 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.

Charles Dunlop, founder and CEO of Ambry Genetics, added, "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."

Related Links:
Ambry Genetics