The CLIA Molecular Diagnostics Laboratory supports cancer- and disease-related research by validating genetic mutation detection, DNA sequencing, and gene expression technologies for researchers, as well as examining human specimens to provide health assessment, prevention, diagnosis, and disease treatment information to interested parties.

We provide an array of services for intramural investigators within the National Institutes of Health research community as well as for external researchers at partner institutions, such as Hood College.

CLIA-certified laboratory since 1998

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

CLIA assays are required of any technology, existing or new, that will be used to examine human specimens to report results to a physician, patient, or patient’s family or to utilize those results in current or future treatment decisions. 

Technician working with an assay and tablet in a lab

Collaboration Opportunities

Potential collaborators can contact us to inquire about accessing our services at NCI-FrederickCMDLCLIAGroup@mail.nih.gov.   

Our capabilities include many high-complexity assays in niche areas not suitable for higher volume clinical testing. We provide access to cutting-edge technologies and specialized services, including:

  • Fragment analysis *
  • Mutation detection *
  • PharmacoScan™ *
  • Nucleic acid extraction*
  • ​​​​​​Droplet digital PCR (ddPCR)*
  • NanoString nCounter® single-molecule counting* 
  • PCR and Sanger sequencing*
  • Next-generation sequencing 
  • Quantitative PCR (qPCR) 
  • Mass spectrometry 
  • Automated staining (RNAscope) for IHC and ISH
  • GeneChip™ Array plate assays for Gene Titan 
  • FFPE block sectioning*

* indicates CLIA-validated

NIH researchers can access our capabilities through CREX while external researchers may contact our Partnership Development Office. Custom projects can be discussed–please contact us.

Immune cell killing tumor cell expressing neoantigens
Targeting a “Lynch-pin” of cancer

A potential vaccine to prevent cancer in people with Lynch syndrome

Our laboratory supports NCI Division of Cancer Prevention investigators in development of Lynch syndrome models to test vaccine candidates and assays to detect vaccine efficacy.
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What is this? Immune cell killing tumor cell expressing neoantigens
Information
EBV
A different type of plasma screen

Epstein-Barr virus testing via ddPCR

Our laboratory optimized the automated extraction of EBV viral DNA from low-volume plasma (≤250uL), then developed a droplet digital PCR assay to detect and quantitate EBV copy number. We are expanding this assay to include testing of saliva and buffy coat DNAs.
What is this? EBV
Information

High complexity and high quality

Our laboratory collaborates with NIH investigators and academic partners, with several projects lasting more than a decade and expanding as new technologies have become available. We process samples requiring examination of materials derived from the human body to provide information for the diagnosis, prevention, or treatment of any disease or about human health conditions. 

Our capabilities and specializations

Pharmacogenomics 

We process PharmacoScan™ arrays for genotyping to determine how genetic variations affect prescription drug absorption, distribution, metabolism, and excretion (ADME). 

  • Provide companion assay with fragment analysis of the UGT1A1 (TA)n (rs3064744) allele for use in irinotecan dosing 

  • GeneTitan™ instrument 

  • Specialized reporting with activity scores, including Clinical Pharmacogenomics Implementation Consortium (CPIC) activity scores, for clinically relevant drug/gene interactions 

  • Results typically reported within 14 business days 

Sanger sequencing 

We conduct Sanger sequencing for mutation detection for NCI, RAS Initiative, and National Institute of Allergy and Infectious Diseases investigators, among others.  

  • Consult on projects, providing primer design as needed 

  • Expert troubleshooting for challenging projects 

  • Custom services from sample cleanup, cycle sequencing, and automated liquid handling for magnetic bead purification to ABI 3730XL instrument runs 

  • Results uploaded to secure LIMS, typically within 24 to 48 hours  

Development and validation of new assays for clinical use 

Our team advances research-grade assays and validates them under CLIA regulations. We support pharmacogenomics studies for the National Institutes of Health Clinical Center.

  • NanoString technology for diffuse large B-cell lymphoma 

  • Droplet digital polymerase chain reaction for pseudogene deletion detection, copy number, and mosaicism detection with mutant allele frequency 

  • Next-generation sequencing 

  • RNAscope™ 

  • Proteomics mass spectrometry 

Mutation detection 

We perform specialized mutation detection assays across a multitude of technologies including NGS, ddPCR, and traditional PCR and Sanger sequencing for the discovery of de novo mutations, as well as for the confirmation of other sequencing data. We developed assays for more than 200 genes linked to specific diseases. 

  • Lynch syndrome, chronic granulomatous disease, dyskeratosis congenita, melanoma, colorectal cancer, xeroderma pigmentosum, kidney disease Assay design and optimization 

  • Data analysis using SoftGenetics Mutation Surveyor®   

  • Customized clinical reports including DNA sequence chromatogram images 

  • Build 38 ClinVar references 

  • Results typically delivered to investigator’s LIMS request within 10 or fewer business days