Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Illumina Launches TruGenome Undiagnosed Disease Test

Published: Monday, October 28, 2013
Last Updated: Monday, October 28, 2013
Bookmark and Share
A single clinical test provides unbiased analysis of the whole genome for challenging cases.

Illumina, Inc. has announced the launch of its TruGenome Undiagnosed Disease Test provided by the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory (ICSL).

This new service uses whole human genome sequencing to assist physicians in identifying the underlying genetic cause of a rare or undiagnosed disease.

By providing physicians with more comprehensive information from a single test, the service enables a broader understanding of the genetic basis for disease.

The ICSL uses proven Illumina next-generation sequencing technology to provide a complete picture of the genome.

Illumina's team of Ph.D. geneticists and certified medical geneticists with expertise in reviewing whole-genome data as it pertains to genetic disease performs the analysis using Illumina's VariantStudio software for rigorous variant classification.

VariantStudio aggregates data from multiple sources into a single database that is updated as new discoveries are made, ensuring that analysis is based on current knowledge of clinically relevant gene variants.

"Whole-genome sequencing and interpretation tools have the potential to benefit the 350 million people worldwide affected by rare diseases, 50 percent of whom are children. By offering the TruGenome Undiagnosed Disease Test, and partnering with other leading medical institutions that are beginning to offer whole-genome sequencing tests for the diagnosis of rare diseases, Illumina intends to demonstrate the clinical utility of whole-genome sequencing in these cases," said Matt Posard, Senior Vice President and General Manager of Illumina's Translational and Consumer Genomics business.

Posard continued, "By developing and defining the tools needed to perform whole-genome sequencing and interpret the results in rare disease cases, we hope to enable clinical laboratories to offer these services worldwide in the future. In the end, we all want to see answers for patients and families facing an undiagnosed disease."

"Whole-genome sequencing is proving to be an invaluable tool in the identification of rare and undiagnosed disease, and as we learn more about the human genome and its impact on human health, I expect sequencing to become a regular component of health care. Medical College of Wisconsin's partnership with Illumina for clinical testing services has greatly advanced our capacity in this area," said Howard Jacob, Director of the Human and Molecular Genetics Center and Warren P. Knowles Chair of Genetics at the Medical College of Wisconsin.

The new TruGenome Undiagnosed Disease Test will be available for physicians to order beginning in December 2013.


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 3,300+ scientific posters on ePosters
  • More Than 4,900+ 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

Illumina Applauds FDA’s Issuance of Draft Guidances
Company has supported the FDA in their efforts to provide a flexible and streamlined approach to the oversight of NGS diagnostic test.
Friday, July 08, 2016
Illumina Announces Agricultural Greater Good Initiative Grant
The grant program is designed to help identify measures that can increase crop yields and improve livestock welfare and productivity to alleviate poverty and hunger in the developing world.
Tuesday, June 14, 2016
ArcherDX, Illumina Launch Collaboration
Agreement to bring multiple Archer® assays through the FDA approval process.
Tuesday, May 31, 2016
Illumina Registers MiSeqDx System in South Korea
Regulatory milestone clears path for clinical laboratories to use Illumina NGS technology.
Tuesday, May 10, 2016
Illumina Files Patent Infringement Suit against Genoma SA
Company has announced that it has filed a patent infringement suit against Genoma SA in the Switzerland for Infringement of NIPT Patents.
Friday, April 22, 2016
Illumina Invests In New Venture Fund
Illumina will commit $100M over 10 years to drive genomic technology development.
Friday, April 15, 2016
Illumina Applies CE Mark to VeriSeq™ NIPT Analysis Software
Company has announced that it has applied the CE mark to expand the use of VeriSeq NIPT analysis software in clinical laboratories.
Thursday, February 25, 2016
Illumina Sues Oxford Nanopore for Patent Infringement
Illumina, Inc. has announced that the company filed lawsuits against Oxford Nanopore Technologies Ltd. and Oxford Nanopore Technologies, Inc. (ONT).
Wednesday, February 24, 2016
Genomics England, Illumina Enter Bioinformatics Partnership
Illumina, and Genomics England have announced a partnership to develop a platform and knowledge base that can be used to improve and automate genome interpretation.
Thursday, February 11, 2016
Illumina Signs Multiple Biobank Deals
Company has signed four deals to advance personalized medicine and improve health care.
Tuesday, February 09, 2016
Illumina Signs Multiple Biobank Deals
MEGA array family and next-generation sequencing to support comprehensive genomics approach toward personalized medicine.
Wednesday, February 03, 2016
Illumina Appoints Dr. Frances Arnold to its Board of Directors
Dr. Arnold is the Director of the Donna and Benjamin M. Rosen Bioengineering Center.
Sunday, January 31, 2016
Illumina Appoints Dr. Frances Arnold to Its Board of Directors
Illumina, Inc. has announced that Dr. Frances Arnold has joined the company’s Board of Directors. Dr. Arnold manages a research group at the California Institute of Technology and is the Director of the Donna and Benjamin M. Rosen Bioengineering Center.
Thursday, January 28, 2016
Illumina Acquires Conexio Genomics
Acquisition strengthens company’s ability to deliver sample-to-report solutions for HLA typing.
Wednesday, January 27, 2016
Illumina Forms New Company
GRAIL to enable early cancer detection via blood-based screening.
Tuesday, January 12, 2016
Scientific News
Breakthrough Flu Vaccine Inhibited by Pre-existing Antibodies
Universal truths – how existing antibodies are sabotaging the most promising new human flu vaccines.
Researchers Develop Software That Could Facilitate Drug Development
AptaTRACE can identify aptamers, potentially speed drug advancement.
Gene Therapy for Metabolic Liver Diseases
Researchers have tested gene therapy in pigs from hereditary tyrosinemia type 1, with corrected liver cells being transplanted into the diseased liver.
Zika Vaccine Candidates Show Promise
Two experimental vaccines have shown promise against a major viral strain responsible for the Brazilian Zika outbreak.
New Medication Shows Promise Against Liver Fibrosis in Animal Studies
Liver fibrosis is a gradual scarring of the liver that puts people at risk for progressive liver disease and liver failure.
Raw Eggs Deemed Safe to Eat
A report published today by the Advisory Committee on the Microbiological Safety of Food (ACMSF) into egg safety has shown a major reduction in the risk from salmonella in UK eggs.
Monitoring TTX Toxin in Shellfish
In a number of small studies, mussels and oysters from the eastern and northern part of the Oosterschelde in Holland were found to contain tetrodotoxin (TTX).
Gene Terapy for Muscle Wasting Developed
New gene therapy could save millions of people suffering from muscle wasting disease.
NIH Begins Yellow Fever Vaccine Trial
NIH has initiated an early-stage clinical trial of a vaccine to protect against yellow fever.
Gene-Editing 'Toolbox' Targets Multiple Genes Simultaneously
Researchers have designed a system that modifies, or edits, multiple genes in a genome at once while minimising unintentional effects.
Scroll Up
Scroll Down
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
3,300+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,900+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!