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Preanalytical Evaluation & Molecular Testing Services


The Pre-analytical Evaluation and Molecular Testing (PEMT) Service ensures the use of adequate and accurately classified tumor and ancillary specimens for molecular testing. Sample processing including macro- and micro-dissection followed by nucleic acid extraction is provided. Molecular tests performed include several single-gene assays (Sanger sequencing, allele-specific qPCR, sizing), micro-satellite instability (MSI) testing, and targeted next-generation sequencing (NGS) assays. All services are performed in a CLIA-certified environment and all molecular assays are accompanied with full data analysis (including bioinformatic analysis for NGS) and a complete report.

Services:

  • Pathologist examination of tissue samples
  • Sample microdissection for internal testing 
  • Sample microdissection to release extract for external testing
  • 26 gene and 67 gene next-generation sequencing (NGS) nutation assays 
  • 53 gene NGS gene fusion assay  
  • Single gene mutation/sequence analysis (Sanger, qPCR, sizing)
  • 24 locus STR analysis for identity confirmation and mixed sample analysis
  • Microsatellite instability testing 
  • MGMT promoter hyper-methylation testing 
  • Custom assay design and evaluation
  • Testing for common polymorphisms in Factor 2, 5, HFE
  • Huntington Disease testing
  • Cystic fibrosis gene sequence by NGS

All services come with:

  • ​Experimental design consultation
  • Full analysis of all data (including bioinformatics analysis for NGS data)
  • An easy to interpret final report

Equipment:

  • Automated extraction equipment (Qiacube) 
  • Nanodrop and Qubit nucleic acid quantitation systems  
  • Agilent Bioanalyzer and TapeStation nucleic acid analysis systems  
  • Pipetting robot 
  • Thermocyclers  
  • Roche Lightcycler for quantitative PCR and RT-PCR analysis  
  • Qiagen Rotor-Gene Q instrument for qPCR  
  • Olympic microscopes, photomicroscopic equipment and Leica microdissection scopes 
  • ABI 3500xl DNA analyzer 
  • Three Illumina MiSeq NGS sequencers 
  • Illumina NextSeq (for upcoming expanded NGS assays)