TruGenome Clinical Sequencing Services
Our 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. Two tests are available: TruGenome Undiagnosed Disease and TruGenome Technical Sequencing Data.
Product Literature
TruGenome Undiagnosed Disease
The TruGenome Undiagnosed Disease Test is a clinical sequencing test intended to provide to identify the underlying cause of a genetic condition with a single-gene etiology (Mendelian diseases). This whole-genome 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 many candidate genes to evaluate, or the phenotype might indicate multiple genetic conditions.
Order TruGenome Undiagnosed Disease Test| TruGenome Clinical Sequencing Service | Catalog No. |
|---|---|
| TruGenome Undiagnosed Disease Test* | 15046447 |
| TruGenome Undiagnosed Disease Trio Test* | 15046450 |
*Contact the Illumina Clinical Services Laboratory for pricing and turnaround time.
Product Literature
TruGenome Technical Sequencing Data
For clinical researchers operating under an institutional review board (IRB), or for clinical laboratories that have established their own pipelines for clinical reporting, we offer a technical-only reporting option. The Illumina Clinical Services Laboratory provides whole-genome sequencing (WGS) 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 WGS of germline DNA to ~30× average depth for more than 90% of the human genome from blood. This test delivers 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.
Order TruGenome Technical Sequencing Data| TruGenome Clinical Sequencing Service | Catalog No. |
|---|---|
| TruGenome Technical Sequence Data* | 20086422 |
*Contact the Illumina Clinical Services Laboratory for pricing and turnaround time.
CAP Accreditation
The College of American Pathologists (CAP) is an organization of board-certified pathologists that serves patients, pathologists, and the public by fostering and advocating excellence in the practice of pathology and laboratory medicine worldwide. The accreditation program helps improve patient safety by advancing the quality of laboratory services through standard settings and inspections. To read more on the CAP accreditation process, visit www.cap.org.
Illumina CAP accreditation number: 7217613
CLIA Certification
Clinical Laboratory Improvement Amendments (CLIA) is a set of regulations administered by the Centers for Medicare & Medicaid Services (CMS) for laboratory testing of human samples. The objective of the CLIA program is to ensure quality laboratory testing through laboratory certification, personnel standards, proficiency programs, and inspections. In total, CLIA covers approximately 225,000 laboratory entities. To read more on CLIA, visit the Centers for Medicare and Medicaid Services at www.cms.gov.
Illumina CLIA certification number: 05D1092911
Stewart W. Comer, MD, MA, FCAP
Clinical Laboratory Director
Dr. Comer received dual baccalaureate degrees in Biology and Applied Mathematics as well as his Medical Degree from the University of California at San Diego (UCSD). He later obtained his Master’s Degree in Management with a focus on statistical decision analysis from the Peter Drucker College of Management at Claremont Graduate University. Dr. Comer completed his combined Anatomic and Clinical Pathology residency at Naval Medical Center San Diego followed by a fellowship in Molecular Genetics Pathology at the Memorial Sloan Kettering Cancer Center. He is Board Certified by the American Board of Pathology in Anatomic and Clinical Pathology and a Fellow of the College of American Pathologists (FCAP). Dr Comer has been a CLIA Laboratory Director for 28 years with diagnostic experience in anatomic pathology encompassing surgical, forensic and cytologic pathology as well as clinical pathology. His background in clinical pathology includes extensive experience in translational medicine as applied to hematologic and solid tumor oncology, molecular-based infectious disease testing as well as specialized immunology/molecular genetic pathology including PCR, Sanger and high-throughput sequencing, microarrays, cytogenetics, FISH and immunohistochemistry.
Prior to joining Illumina, Dr. Comer served as the Department Chair of the Cottage Health Pathology & Laboratory Department as well as the Laboratory Director for all three Cottage Health hospitals (Santa Barbara, Goleta and Santa Ynez, CA), the Santa Barbara County Public Health Laboratory and the Pacific Diagnostic Core Laboratory, which is the largest clinical reference laboratory in the Central California Coast between Los Angeles and San Francisco. In addition to his clinical laboratory practice, he also served over the past 7 years as a consulting research pathologist at Agilent/Dako (Carpenteria, CA) on a companion diagnostic-based biomarker assay (PD-L1) for the companion checkpoint inhibitor drug (Keytruda®) culminating in final FDA approval.
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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.