Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
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 3,500+ scientific posters on ePosters
  • More than 5,000+ 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 Accelerator Welcomes First International Fellow
Illumina Accelerator has expanded their startup pool with the Center of Individualized Diagnostics (CID).
Wednesday, August 24, 2016
Illumina Invests In New Venture Fund
Illumina will commit $100M over 10 years to drive genomic technology development.
Friday, April 15, 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
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 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
Bio-Rad, Illumina Partner
Scalable, high-throughput platform to offer unprecedented insight into gene expression of individual cells.
Tuesday, January 12, 2016
Novogene and Illumina Enters into Agreement
Agreement to co-develop NGS diagnostic system for reproductive health and oncology applications.
Wednesday, December 16, 2015
bioMérieux and Illumina Announce the Launch of bioMérieux EpiSeq™
A revolutionary next-generation sequencing service for epidemiological monitoring of bacterial infections.
Tuesday, December 15, 2015
Illumina Accelerator Announces Third Funding Cycle of Genomics Startups
Invests in synthetic biology, reproductive health, skin microbiome and nutrition startups.
Thursday, December 10, 2015
Desktop Genetics Receives Strategic Investment from Illumina
Illumina invests in Desktop Genetics' technology to support the platform's integration with NGS pipelines and improve CRISPR genome editing workflows.
Thursday, December 10, 2015
Amoy Diagnostics and Illumina Enter Strategic Collaboration
Collaboration for next-generation sequencing cancer diagnostics in China.
Thursday, October 01, 2015
Illumina Joins WIN Consortium in Personalized Cancer Medicine
A global network of leading academic, industry, insurance and non-profit research organizations.
Thursday, September 24, 2015
MSK and Illumina Launch Comprehensive Circulating Tumor DNA Program
Collaboration aims to determine range of opportunities for non-invasive cancer diagnosis and monitoring.
Thursday, September 17, 2015
Illumina Completes Acquisition of GenoLogics
Illumina’s to drive the adoption of sequencing in new markets and improve the genomic workflow.
Wednesday, September 02, 2015
Scientific News
ReadCoor Launched to Commercialize 3D Sequencing Tech
ReadCoor will leverage the Wyss Institute’s method for simultaneously sequencing and mapping RNAs within cells and tissues to advance development of diagnostics.
NCI Collaborates with Multiple Myeloma Research Foundation
NCI collaborates with MMRF to incorporate genomic and clinical data into NCI Genomic Data Commons database.
Epigenetic Clock Predicts Life Expectancy
New research finds 5 percent of population ages faster, faces shorter lifespan.
Modified Yeast Shows Plant Response to Key Hormone
Researchers have developed a toolkit based on modified yeast to determine plant responses to auxin.
Death-or-Repair Switch Protein Identified
Researchers have identified a protein that plays a key role in the decision process of cell damage repair or cellular suicide.
Blood Pressure Drug May Boost Effectiveness of Lung Cancer Treatment
Researchers at Imperial College London have suggested that the blood pressure drug may make a type of lung cancer treatment more effective.
Regulatory RNA Essential to DNA Damage Response
Researchers discover a tumour suppressor is stabilized by an RNA molecule, which helps cells respond to DNA damage.
Wearable Microscope Can Measure Fluorescent Dyes Through Skin
UCLA research could make monitoring disease biomarkers easier and more cost-effective.
Crispr Toolbox Expanded By Protein
Researchers have shown a newly discovered CRISPR protein has two distinct RNA cutting activities.
Genetic Impact of Endurance Training
Research has found that endurance training changes genetic activity in thousands of genes, giving rise to large number of altered RNA variants.
Skyscraper Banner

SELECTBIO Market Reports
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
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,000+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!