Clinical Offerings

The UPMC Genome Center works with clinicians, medical centers, and direct-to-consumer organizations to provide clinical sequencing services within our CAP accredited, CLIA certified lab. Our expert team of laboratory technicians, bioinformaticians, variant scientists and board-certified CLIA director are ready to support your clinical needs. Together we can shape patient care and outcomes through the application of our high-quality sequencing results.

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Whole Genome Sequencing (WGS) for Rare and Undiagnosed Diseases

Clinical constitutional WGS involves the sequencing of the entire genome within the submitted patient specimen. Compared to whole exome sequencing (WES), WGS includes the sequencing of the protein coding and non-protein coding regions in the genome. This test is primarily being used in discovery of rare disease variants, such as those seen in neonatal or pediatric care units, or complex disease variants, such as those related to digestive system disorders.

The Genome Center’s Clinical Laboratory returns sequencing results within 2 weeks. Upon request, the laboratory can increase the turnaround times. Results are sent to the ordering physician and/or genetic counselor who will discuss the results with the patients.

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Whole Exome and Transcriptome Sequencing (WETS) for Oncology

WETS is a complex test that involves sequencing the DNA and RNA of the patient’s tumor and matched normal samples. This test detects sequence variants in the protein coding regions of the genome (exons) via whole exome sequencing and fusion genes via transcriptome sequencing. This test can be used for solid tumors. Specific panels of genes are analyzed depending on the tumor origin, prognosis and treatment options.

The Genome Center’s Clinical Laboratory returns results within 4-6 weeks, including a report detailing the detected variants.

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Pharmacogenomics (PGx) for Drug-Gene Testing

Clinical Pharmacogenomics, also called drug-gene testing, tests how a patient’s genes affect his/her response to medication. This test includes screening patient specimens for actionable markers of drug-gene interactions. The clinical laboratory analyzes markers in several genes that may impact a person’s ability to process and respond to certain medications.

The Genome Center’s Clinical Laboratory returns results within 3-4 weeks, including a report that indicates genotype and predicted phenotypes. Along with other clinical factors, pharmacogenomics may be important to tailor therapy or optimize drug doses with the goal of maximizing medication outcomes, reducing/avoiding of adverse events, and preventing harmful drug-drug interactions.

Submit a Sample

Fill out and submit the Clinical Requisition Form and package with your sample requisition form with physician’s signature.

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Project Management

At the Genome Center, we pride ourselves on professional, efficient, and friendly service during every aspect of a project life cycle. We start by assigning each project a direct point-of-contact for investigators to ensure consistent and clear communication. Through our in-depth understanding of sequencing technologies, we support customer projects and requests to enable maximum project efficiency and utility.

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Data Management

Data will be only returned after the signed quote is received. Data will be stored by Genome Center up to 30 days after the data is sent back. After 30 days, the data will be automatically removed from Genome Center storage unless users request for long-term storage with extra cost. We will be unable to provide any data back once the data is removed from our server.


Data Delivery

The Genome Center will always return data in secure download links.

Our Process



QC &

& Report

& Close