Navigation Links
Ambry Genetics First to Offer Exome Sequencing Service for Clinical Diagnostics.
Date:9/29/2011

ALISO VIEJO, Calif., Sept. 29, 2011 /PRNewswire/ -- 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.

(Logo: http://photos.prnewswire.com/prnh/20110307/LA59848LOGO)

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."

About the Clinical Diagnostic Exome™

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.

About Ambry Genetics

Ambry Genetics is a CAP-accredited and CLIA-certified commercial clinical laboratory with headquarters in Aliso Viejo, California. Since the company's inception in 1999, it has become a leader in providing genetic services focused on clinical diagnostics and genomic services, particularly sequencing and array services. Ambry has established a solid reputation for unparalleled service and has been at the forefront of applying new technologies to the clinical molecular diagnostics market and to the advancement of disease research. To learn more about testing and services available through Ambry Genetics, visit www.ambrygen.com


'/>"/>
SOURCE Ambry Genetics
Copyright©2010 PR Newswire.
All rights reserved

Related biology technology :

1. Ambry Genetics Announces the Addition of Array CGH Services Through Partnership With Baylor College of Medicine
2. Ambry Genetics Announces Certified Service Provider Status for Agilent Microarrays
3. Ambry Genetics Launches First X-Linked Mental Retardation Diagnostics Using Next Generation Sequencing
4. Ambry Genetics is First Authorized Customer Service Provider in New Ion Torrent CSP Program
5. Interleukin Genetics Licenses its PST(R) Genetic Test to OralDNA Labs
6. deCODE genetics to Webcast Presentation at Thomas Weisel Partners Healthcare Conference 2008
7. Interleukin Genetics and Alticor Agree on Expansion of Distribution Channels for Genetic Tests
8. Expression Genetics EGEN-001 Named One of 10 Most Promising Oncology Products by Windhover
9. Exosome Diagnostics Appoints Johan Skog, Ph.D., as Director of Genetics Research
10. MedImmune Licenses Reverse Genetics Technology to Hungarys Omninvest for Use in Influenza Vaccine Development and Production
11. deCODE genetics Announces Webcast of Conference Call to Discuss Third Quarter 2008 Financial Results
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/12/2017)... ... October 12, 2017 , ... AMRI, a global contract ... to improve patient outcomes and quality of life, will now be offering its ... attributed to new regulatory requirements for all new drug products, including the finalization ...
(Date:10/11/2017)... , ... October 11, 2017 , ... Personal eye wash is a basic first aid ... at a time. So which eye do you rinse first if a dangerous substance enters ... Plum Duo Eye Wash with its unique dual eye piece. , “Whether its dirt ...
(Date:10/11/2017)... and LAGUNA HILLS, Calif. , Oct. 11, ... Research, London (ICR) and University of ... SkylineDx,s prognostic tool to risk-stratify patients with multiple myeloma (MM), ... nine . The University of Leeds ... funded by Myeloma UK, and ICR will perform the testing ...
(Date:10/10/2017)... ... October 10, 2017 , ... San Diego-based team building and cooking ... initiative announced today. The bold new look is part of a transformation to ... into a significant growth period. , It will also expand its service offering from ...
Breaking Biology Technology:
(Date:4/5/2017)... April 5, 2017  The Allen Institute for Cell ... Explorer: a one-of-a-kind portal and dynamic digital window into ... data, the first application of deep learning to create ... cell lines and a growing suite of powerful tools. ... these and future publicly available resources created and shared ...
(Date:4/3/2017)... 2017  Data captured by IsoCode, IsoPlexis ... a statistically significant association between the potency ... and objective response of cancer patients post-treatment. ... whether cancer patients will respond to CAR-T ... as to improve both pre-infusion potency testing and ...
(Date:3/29/2017)... CHICAGO , March 29, 2017  higi, the ... ecosystem in North America , today ... Partners and the acquisition of EveryMove. The new investment ... extensive set of tools to transform population health activities ... and lifestyle data. higi collects and secures ...
Breaking Biology News(10 mins):