Illumina’s TruGenome Undiagnosed Disease Test to Identifying Causes for Rare Diseases


Illumina Inc. has announced that its TruGenome Undiagnosed Disease Test will be added to the list of services offered by Illumina Clinical Services Laboratory (ICSL). The new service helps physicians identify the underlying genetic causes for rare or undiagnosed diseases by using whole genome sequencing data obtained from a single test.

A team of highly qualified geneticists from Illumina analyze and review the genetic information obtained using the company’s next generation sequencing technology to provide answers. Illumina’s VariantStudio data analysis software aggregates data from multiple sources into a constantly updated database to ensure that the analysis is based on latest information and clinically relevant gene variants.

With around 350 million people suffering from rare diseases across the world, the whole genome sequencing and interpretation tools have a huge potential in diagnosing and treating these diseases on time. It will also help researchers learn more about the human genome and its impact on human health. Physicians will be able to order the new TruGenome Undiagnosed Disease Test from the beginning of December 2013.

Source: Illumina

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