TruGenome Clinical Sequencing Services

Our 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.

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* FT-800-1005
TruGenome Undiagnosed Disease Trio Test* FT-800-1006

*Contact the Illumina Clinical Services Laboratory for pricing and turnaround time.

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* FT-800-1001

*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

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

Illumina CLIA certification number: 05D1092911

Sue Beruti, MD, MHA

Clinical Laboratory Director

Dr Beruti received her Bachelor of Science degree in Molecular Biology from the University of Michigan. She obtained a dual Medical degree and Master of Health Administration from The Ohio State University College of Medicine and Public Health. Dr Beruti completed her Anatomic and Clinical Pathology residency followed by a fellowship in Hematology at Cedars Sinai Medical Center. She is Board Certified by the American Board of Pathology in Anatomic Pathology, Clinical Pathology, and Hematology.

Dr Beruti has over 15 years of diagnostic experience in surgical pathology, hematology, and molecular pathology with a focus on hematological malignancies, solid tumor malignancies, and genetic disease. Her expertise also includes various related molecular and translational diagnostic modalities, including NGS, RNA gene expression assays, cytogenetics/FISH, flow cytometry, and immunohistochemistry. She has experience in clinical trial biomarker assay design and implementation, novel assay implementation, biomarker research, and automated image analysis. Before joining Illumina, Dr Beruti was Senior Director of Clinical Diagnostics and Medical Affairs at Sequenom (San Diego, CA) and Director of Pathology and Medical Affairs at Novartis and Genoptix (San Diego, CA).

Interested in receiving newsletters, case studies, and information on new applications? Enter your email address.

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.