TruGenome Clinical Sequencing Services

TruGenome Clinical Sequencing Services

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. TruGenome Services provide:

  • Clinical interpretation options tailored to your practice’s and/or patient’s needs
  • Access to genetic specialists with expertise in analyzing and interpreting whole-genome data
  • High-quality, comprehensive coverage of exomic, promoter, and regulatory regions through whole-genome sequencing with widely adopted Illumina next-generation sequencing (NGS) technology

Several TruGenome Services are currently available. If you are considering whole-genome sequencing for your patients, we strongly encourage you to contact us prior to ordering so that we can help you choose the appropriate service and aid in diagnostic evaluation. We are available to discuss coverage of the targeted genes/regions, additional analysis and/or support that may be needed, and any other testing needs.

The TruGenome Undiagnosed Disease Test is a clinical whole-genome test intended to provide to identify the underlying cause of a genetic condition with a single-gene etiology (Mendelian diseases). This test is most appropriate for situations where comprehensive genomic evaluation may clarify or refine the diagnosis. This situation can occur when the presenting set of symptoms and tests are inconclusive, there are a large number of candidate genes to evaluate, or the phenotype might indicate multiple genetic conditions.

TruGenome Clinical Sequencing Service Catalog No. Pricing
TruGenome Undiagnosed Disease Test FT-800-1005 $9,500, 90 days
TruGenome Undiagnosed Disease Trio Test FT-800-1006 $17,500, 90 days

The TruGenome Predisposition Screen is intended for healthy adults, over the age of 18, 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. This information can help physicians make informed management and treatment decisions for their patient’s health based on information provided from genome sequencing. Analysis and interpretation are performed on approximately 1700 genes that have well-established associations to more than 1200 conditions (as found in the NIH Genetic Testing Registry and Online Mendelian Inheritance in Man®), and 11 medically actionable genes associated with response to 16 different drugs (as specified by the FDA or the Clinical Pharmacogenomics Implementation Consortia (CPIC). This test does not screen for variants associated with complex diseases known to have multiple gene and environmental contributors.

TruGenome Clinical Sequencing Service Catalog No. Pricing
TruGenome Predisposition Screen FT-800-1004 $9,500, 90 days

For clinical researchers operating under an IRB, or for clinical laboratories that have established their own pipelines for clinical reporting, the Illumina Clinical Services Laboratory offers a technical-only reporting option. The Illumina Clinical Services Laboratory provides whole-genome sequencing data in two formats: a gVCF and a BAM. The gVCF represents all calls at all positions that passed the quality thresholds set within the laboratory, and represents an accuracy consistent with other clinically actionable tests. The second format is called a BAM format, and is appropriate solely for downstream CLIA/CAP laboratory use or for use in clinical research under IRB approval. The BAM data files do not constitute an analytically validated result and are not appropriate for downstream clinical use unless processed by another clinical laboratory according to their analytically validated pipeline. The test consists of whole-genome sequencing of germline DNA to ~30x average depth for more than 90% of the human genome from blood. This test has a technical deliverable of the sequencing data, with all reads, quality scores, variant calls for further analysis, and a technical report displaying quality and regions of genome coverage. This test does not include interpretation.

TruGenome Clinical Sequencing Service Catalog No. Pricing
TruGenome Technical Sequence Data FT-800-1001 $5,000

Patient privacy and confidentiality are taken seriously at Illumina. Each sample is labeled with a random ID number for laboratory tracking purposes. All Illumina staff that may come into contact with clinical samples and information must complete training consistent with industry standards.

Results are returned via an encrypted hard drive directly to the ordering physician. We encourage doctors and patients to discuss how results from the TruGenome Clinical Sequencing Service will be stored and whether they will be included in the patient's medical records.

Patient information is kept confidential in compliance with all laws. Learn more:

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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.