Illumina Clinical Services Laboratory

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

Genomics-based health care is available now for you and your patients.

We are in the beginning of a new era of using genomic information to make critical health care decisions. A proven and trusted partner, the Illumina Clinical Services Laboratory offers the most comprehensive clinical whole-genome sequencing tests today.

TruGenome Clinical Sequencing tests are intended to 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 many questions about genetic aberrations and rare diseases.
  • You can make genetically informed decisions personalized to each patient.
  • Flexible service offerings are available, based on medical necessity, with the capability for reanalysis to keep up with the pace of new discoveries.

Available Services

The TruGenome Clinical Sequencing Services offer comprehensive evaluation of a patient’s genetic information using genome-based testing in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory. Services available include:

  • TruGenome Undiagnosed Disease Test
    To assist physicians and their patients  to identify the potential underlying cause of a genetic condition
  • TruGenome Predisposition Screen
    For healthy patients interested in learning about their risk for a specific set of adult-onset conditions, assessing their carrier screening status, and understanding their response to certain drugs
  • TruGenome Technical Sequence Data
    For labs  or clinical researchers who prefer to perform their clinical evaluation / interpretation for their patients directly

About the Lab

In 2009, Illumina 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. The Illumina Clinical Services Laboratory was the first to generate a personal genome sequence in a clinical laboratory setting.

Learn more about the lab »

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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.