Illumina Clinical Services Laboratory

Thanks to answers found through genome sequencing, Shelby Valint is now able to walk and talk.

Genomics-based healthcare is available now for you and your patients.
We are in the beginning of a new era of using genomic information to make critical healthcare decisions. To enable you and your patients to take advantages of this transformative knowledge, Illumina Clinical Services Laboratory provides solutions to advance genomics-based healthcare.

TruGenome Clinical Sequencing tests help you both diagnose and assess your patients’ risk for certain genetic diseases:

  • With genome-based testing, we can deliver comprehensive answers—accurately and quickly—to your questions about genetic aberrations and rare diseases.
  • You can make genetically informed decisions personalized to each patient.
  • Ultimately, genome-based testing may enable us to manage health through wellness, not illness.

Service Descriptions

Currently, three TruGenome Clinical Sequencing Services are available:

  • TruGenome Undiagnosed Disease Test
    For helping find the underlying genetic cause of an undiagnosed rare genetic disease of single-gene etiology
  • TruGenome Predisposition Screen
    For healthy patients interested in learning about their carrier status and genetic predisposition towards adult-onset conditions
  • TruGenome Technical Sequence Data
    Whole-genome sequencing in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory for labs and physicians who will make their own clinical interpretations

Read more about the TruGenome Clinical Sequencing Services »

For Physicians

Whole-genome sequencing provides the most comprehensive genome-based testing currently available. The information gained may prove helpful in managing your patient’s healthcare. In this section, you can review the process, including how to order a test, download test forms, understand how results are delivered, and find answers to frequently asked questions.

Learn more about the genome-based testing process »

For Patients/Guardians

Information from your genome sequence can be used to understand how DNA changes or variations in your genome may impact your health. In this section, you’ll learn more about the genome, how we read the genome, and the role of genes in inherited disease.

Learn more about the genome »

About the Lab

Illumina has been providing high-quality DNA analysis services, including next-generation sequencing (NGS), to the research community since 2001. In 2009, we established a CLIA-certified, CAP-accredited clinical laboratory, Illumina Clinical Services Laboratory, for the purpose of offering human whole-genome sequencing services to physicians and genetic counselors. All of our Clinical Laboratory Scientists are NCA-certified in molecular genetics with active California licenses as Clinical Molecular Genetic Scientists and California-approved Medical Technologists (ASCP). They have extensive training and experience with Illumina NGS technologies. In fact, the Illumina Clinical Services Laboratory was the first to generate a personal genome sequence in a clinical laboratory setting.

Learn more about us »

DNA Sequencing Solves A Medical Mystery

Howard Jacob, Ph.D.Video: Howard Jacob, Ph.D.

Howard Jacob, Ph.D., Medical College of Wisconsin
Hear how Dr. Jacob saved a child with an undiagnosed disease.
Watch the video »

In the News

Understand Your Genome

Be a part of the movement that engages, educates, and motivates the medical community to improve overall human health.
Get genomed »

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 your physician in the evaluation of a broad range of health conditions or physiological traits. You will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of your genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If you have any questions or concerns about what you learn through your genome sequence information, you should contact your physician or a genetic counselor. Currently Illumina does not accept orders for TruGenome Clinical Sequencing Services from New York.