CLIA Molecular Diagnostics Laboratory

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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.