Offering clinical whole-genome sequencing for your patients

Clinical Whole-Genome Sequencing Services

In 2009, we established a CLIA-certified, CAP-accredited laboratory to offer clinical whole-genome sequencing services. The Illumina Clinical Services Laboratory was the first clinical lab to generate a personal whole-genome sequence and remains a leading service provider today.

Through programs like Understand Your Genome, our lab has performed clinical whole-genome sequencing for over 2000 asymptomatic adults, resulting in the world's largest cohort of clinically sequenced individuals. While we have discontinued the TruGenome Predisposition Screen for healthy adults, we continue to offer the TruGenome Undiagnosed Disease Test to assist physicians in identifying the potential underlying cause of a genetic condition.

The Illumina Clinical Services Laboratory offers the TruGenome Undiagnosed Disease Test, a clinical whole-genome sequencing test for patients with a suspected rare and undiagnosed genetic disease. The lab also supports the iHope Program, which donates clinical genome sequencing tests to help find answers for children facing these types of diseases.

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Sophia's iHope Story
Sophia's iHope Story

Clinical whole-genome sequencing uncovered a de novo mutation, helping Sophia's doctors diagnose her rare condition.

If you are considering clinical whole-genome sequencing for your patients, we strongly encourage you to contact us before ordering. Illumina experts are available to discuss coverage of the targeted genes/regions, additional analysis or support that may be needed, and any other testing needs.

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Genomics 101

Find basic information about the genome and the relationship between genes and inherited disease.

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TruGenome Clinical Sequencing Services is performed in the Illumina CLIA (Clinical Laboratory Improvements Amendment)-certified and CAP (College of American Pathologists)-accredited Clinical Services Laboratory. The TruGenome Sequence information is generated by licensed personnel using an analytically validated process. Consistent with Laboratory Developed Tests, it has not been cleared or approved by the U.S. Food and Drug Administration.

This genome sequence information can be analyzed to potentially aid physicians in the evaluation of a broad range of health conditions or physiological traits. Patients will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If any questions or concerns arise about what is learned through the genome sequence information, patients should contact their physician or a genetic counselor. Currently Illumina does not accept orders for TruGenome Clinical Sequencing Services from New York.