What We Do

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Stephen Hewitt, M.D. Director, CLIA Molecular Diagnostics Laboratory
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Kristen Pike Associate Scientist

Overview

The CLIA Molecular Diagnostics Laboratory makes clinical Sanger sequencing, genetic mutation detection, and gene expression technologies available to researchers.

We strive to support cancer and other disease-related research by providing access to cutting-edge technologies and specialized services, including nucleic acid extraction, fragment analysis, droplet digital polymerase chain reaction, next-generation sequencing, and NanoString analysis.

The laboratory works with groups within the National Institutes of Health, as well as academic partners. Potential collaborators can contact us to inquire about accessing our services.

Clinical laboratories must be CLIA (Clinical Laboratory Improvement Amendments) certified by the state and the Center for Medicare and Medicaid Services to accept human samples for diagnostic testing.

We have been CLIA certified for more than 20 years.

Focus

A scientist looks at samples in a refrigerator while holding a tablet

Pharmacogenomics 

  • Process requests for Affymetrix Pharmacoscan microarrays to determine how genetic variations affect prescription drug absorption, distribution, metabolism, and excretion (ADME).

  • Provide companion assay with fragment analysis of the UGT1A1 gene.

Core Sanger sequencing

  • Provide Sanger sequencing services for the National Cancer Institute, RAS Initiative, and elsewhere.

  • Consult on and troubleshoot projects and provide primer design as needed.

  • Provide custom-tailored services from ABI 3730XL instrument runs only to cycle sequencing and automated liquid handling for magnetic bead purification.

Validating new assays for clinical use

  • Advance existing research-grade assays and validate them under CLIA regulations.

    • Nanostring technology for diffuse large B-cell lymphoma

    • Droplet digital polymerase chain reaction

    • Next-generation sequencing

    • RNAScope

    • Mass spectrometry

Mutation detection

  • Perform traditional polymerase chain reaction and Sanger sequencing for the discovery of de novo mutations, as well as for the confirmation of whole exome sequencing data, next-generation sequencing data, or whole genome sequencing data.

  • Develop assays for 90 genes involved in diseases, such as:

    • Lynch syndrome

    • Chronic granulomatous disease

    • Dyskeratosis congenita

    • Melanoma

    • Colorectal cancer

    • Xeroderma pigmentosum

    • Kidney disease

  • Scan entire genes or hot spot mutations using Softgenetics Mutation Surveyor software.

Technology

  • NanoString nCounter Flex Dx 

  • GeneTitan MC 

  • MiSeqDx instrument 

  • ABI 3730XL sequencer 

  • BioRad QX200 

  • Agilent Bioanalyzer 2100 

Other