US-based Illumina has announced the introduction of its TruGenome undiagnosed disease test provided by Illumina Clinical Services Laboratory (ICSL).
Using whole human genome sequencing, the TruGenome test helps clinicians in identifying the underlying genetic cause of a rare or undiagnosed disease.
This test provides more comprehensive information to clinicians and enables a broader understanding of the genetic basis for disease.
For providing complete picture of the genome, ICSL uses Illumina next-generation sequencing technology.
For rigorous variant classification, Illumina uses its VariantStudio software which 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.
Illumina translational and consumer genomics business general manager and senior vice president Matt Posard noted whole-genome sequencing and interpretation tools have the potential to benefit the 350 million people worldwide affected by rare diseases, 50% 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.
"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," Posard added.
Illumina’s new TruGenome undiagnosed disease test will be available in December 2013.