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Clinical 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.

Medical Genome Initiative

This consortium of leading institutions is working to expand access to clinical whole genome sequencing (cWGS) for the diagnosis of genetic disease.

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Clinical Whole-Genome Sequencing for Rare Disease

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.

Ordering Clinical Whole-Genome Sequencing Tests

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由Illumina CLIA(临床实验室改进法案)认证和CAP(美国病理学会)认证的Clinical Services Laboratory完成。TruGenome测序信息由有执照的人员使用分析验证过程生成。和实验室先进的检测一样,该检测尚未被美国食品药品监督管理局批准或承认。

基因组测序信息被分析后,在很大范围内能为医生评价健康状况或生理特征提供潜在帮助。患者不会从Illumina收到医疗结果、诊断或治疗建议。任何来源于基因组测序信息分析,且被认作医学可行的结果,应该用另一种检测确认。患者如有任何关于通过基因组测序信息能得到什么的问题或担心,应该联系他们的医生或遗传咨询师。目前Illumina不接受来自纽约的TruGenome Clinical Sequencing Services订单。