Corporate Banner
Satellite Banner
Molecular & Clinical Diagnostics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Ambry Genetics Introduces "First-Step Exome™" Sequencing Test

Published: Thursday, March 29, 2012
Last Updated: Thursday, March 29, 2012
Bookmark and Share
Affordable test will report on mutations in all HGMD-defined genes as part of industry-first tiered approach to diagnostic exome testing.

The First-Step Exome reports on all Human Gene Mutation Database (HGMD)-defined genes.
The role of genes in human disease has only been defined in approximately 20% (~4,400 of ~20,000 genes) of the human genome. The First-Step Exome analyzes the DNA sequence of the exons (coding regions) and flanking intronic regions of these ~4,400 genes. Ambry Genetics believes that the targeted exome sequencing provided by the First-Step Exome is appropriate for a variety of whole exome sequencing indications and will yield the answers clinicians are seeking in many clinical scenarios without the added expense and complexity of whole exome analysis.

“With the launch of the First-Step Exome, Ambry Genetics now offers unparalleled flexibility in exome testing,” said Charles Dunlop, Chief Executive Officer of Ambry Genetics. “The First-Step Exome reports on all HGMD-defined genes at a lower price point than other similar tests offered by competitors. Moreover, after clinicians receive results, we offer them the flexibility to easily reflex to our whole-exome Clinical Diagnostic Exome™ test.”

Four individuals with rare genetic conditions for which the cause could not previously be identified were recently successfully diagnosed using Ambry Genetics’ proprietary new Clinical Diagnostic Exome, three at Kennedy Krieger Institute in Baltimore and one at a large, Ivy League-affiliated university hospital in New York City.

“Building on our successful launch of the Clinical Diagnostic Exome, the First-Step Exome provides a realistic option for clinicians who want to utilize whole exome sequencing in the diagnosis of their patients, but are not prepared to explore the uncharted territory of novel genes or incidental findings,” said Elizabeth Chao, M.D., Director of Translational Medicine at Ambry Genetics. “We believe that the First-Step Exome will become a popular option for clinicians considering exome testing for a variety of indications. For example, this test may be the prudent exome sequencing option for disease phenotypes that have many previously defined genes in the diagnostic differential, but for which traditional genetic testing options for clinical testing are unavailable or cost-prohibitive.”


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Ambry Genetics Launches FFPE Somatic Variant Profiling Services
Ambry Genetics announced today that they have launched a somatic variant detection service, developed in collaboration with Illumina.
Monday, April 08, 2013
Ambry Genetics Reports Results from Clinical Diagnostic Exome™ Testing of Three Patients
Three individuals suffering from symptoms for which the cause could not be identified were successfully diagnosed. The findings are believed to mark the first of their kind in industry, with additional information to be released in the coming weeks.
Monday, January 23, 2012
Ambry Genetics and RainDance Technologies Announce Partnership for Diagnostics and Genomics Services
Ambry Genetics and RainDance Technologies today jointly announced their partnership utilizing the RDT 1000 for sequence enrichment and resequencing validation.
Wednesday, March 17, 2010
Scientific News
Liquid Biopsies: Utilization of Circulating Biomarkers for Minimally Invasive Diagnostics Development
Market Trends in Biofluid-based Liquid Biopsies: Deploying Circulating Biomarkers in the Clinic. Enal Razvi, Ph.D., Managing Director, Select Biosciences, Inc.
Lab-on-a-Chip Offers Promise for TB and Asthma Patients
A device to mix liquids using ultrasonics is the first and most difficult component in a miniaturized system for low-cost analysis of sputum from patients with pulmonary diseases such as tuberculosis and asthma.
Watching a Tumour Grow in Real-Time
Researchers from the University of Freiburg have gained new insight into the phases of breast cancer growth.
Urine Proteins Point to Early-Stage Pancreatic Cancer
A combination of three proteins found at high levels in urine can accurately detect early-stage pancreatic cancer, researchers at the BCI have shown.
Ultrafast DNA Diagnostics
New technology developed by UC Berkeley bioengineers promises to make a workhorse lab tool cheaper, more portable and many times faster by accelerating the heating and cooling of genetic samples with the switch of a light.
Long Telomeres Associated with Increased Lung Cancer Risk
Genetic predisposition for long telomeres predicts increased lung adenocarcinoma risk.
Paving the way to Better Ovarian Cancer Diagnosis
Aïcha BenTaieb will present her invention for automated identification of ovarian cancer’s many subtypes at an international conference this fall.
The Genetic Roots of Adolescent Scoliosis
Scientists at the RIKEN Center for Integrative Medical Sciences in collaboration with Keio University in Japan have discovered a gene that is linked to susceptibility of Scoliosis.
Diagnostic Test Developed for Enterovirus D68
researchers at Washington University School of Medicine in St. Louis have developed a diagnostic test to quickly detect enterovirus D68 (EV-D68), a respiratory virus that caused unusually severe illness in children last year.
Tracking Breast Cancer Before it Grows
A team of scientists led by University of Saskatchewan researcher Saroj Kumar is using cutting-edge Canadian Light Source techniques to screen and treat breast cancer at its earliest changes.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!