" "
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

Join For Free

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 2,900+ scientific posters on ePosters
  • More than 4,200+ 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
‘Smelling’ Prostate Cancer
A research team from the University of Liverpool and the University of the West of England (UWE Bristol) has reached an important milestone towards creating a urine diagnostic test for prostate cancer that could mean that invasive diagnostic procedures that men currently undergo eventually become a thing of the past.
Criminal Justice Alcohol Program Linked to Decreased Mortality
Institute has announced that in the criminal justice alcohol program deaths dropped by 4.2 percent over six years.
Charting Kidney Cancer Metabolism
Changes in cell metabolism are increasingly recognized as an important way tumors develop and progress, yet these changes are hard to measure and interpret. A new tool designed by MSK scientists allows users to identify metabolic changes in kidney cancer tumors that may one day be targets for therapy.
Individuals' Medical Histories Predicted by their Noncoding Genomes
Researchers have found that analyzing mutations in regions of the genome that control genes can predict medical conditions such as hypertension, narcolepsy and heart problems.
'Molecular Movie' Opens Door to New Cancer Treatments
An international team of scientists led by the University of Liverpool has produced a 'structural movie' revealing the step-by-step creation of an important naturally occurring chemical in the body that plays a role in some cancers.
Advancing Synthetic Biology
Living systems rely on a dizzying variety of chemical reactions essential to development and survival. Most of these involve a specialized class of protein molecules — the enzymes.
Preparing for Potential Zika Outbreaks
Experts at the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) are developing tools to monitor the spread of the Zika virus and are conducting research to gather more solid data to better assess the risks associated with the infection.
What do Banana Peels and Human Skin Have in Common?
Human skin and banana peels have something in common: they produce the same enzyme when attacked. By studying fruit, researchers have come up with an accurate method for diagnosing the stages of this form of skin cancer.
Biomarker for Recurring HPV-Linked Oropharyngeal Cancers
A look-back analysis of HPV infection antibodies in patients treated for oropharyngeal (mouth and throat) cancers linked to HPV infection suggests at least one of the antibodies could be useful in identifying those at risk for a recurrence of the cancer, say scientists at the Johns Hopkins University.
Counting Cancer-busting Oxygen Molecules
Researchers from the Centre for Nanoscale BioPhotonics (CNBP), an Australian Research Centre of Excellence, have shown that nanoparticles used in combination with X-rays, are a viable method for killing cancer cells deep within the living body.
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
2,900+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,200+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!