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Illumina Launches TruGenome Undiagnosed Disease Test

Published: Monday, October 28, 2013
Last Updated: Monday, October 28, 2013
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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.


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