Current Test Menu
Solid Tumor Testing (performed on archival pathology material)
-169 gene (full-coding) mutational assay (hybrid capture-based next generation sequencing (NGS)) with copy number variation (amplification/deletion) reporting capabilities
-Gene fusion NGS assay (targets include: ALK, BRAF, EGFR, EWSR1, FGFR1, FGFR2, FGFR3, MAML2, MET, MYB, NRG1, NTRK1, NTRK2, NTRK3, NUTM1, PDGFRA, PDGFRB, PPARG, RET, ROS1, RSPO2, RSPO2, TERT, TFE3, TMPRSS2)
-Single gene mutational analysis
-Allele-specific qPCR (BRAF, EGFR, KRAS)
-Promoter methylation testing (MGMT, MLH1)
-Microsatellite instability (MSI) testing
-Human papilloma virus (HPV) testing (qPCR)
-Fluorescence in-situ hybridization (FISH)
-CMOCO can coordinate FISH offerings through the Colorado Genetics Laboratory (https://medschool.cuanschutz.edu/pathology/department-of-pathology-our-services/colorado-genetics-lab)
Hematopoietic Malignancy Testing
150 gene myeloid mutational assay (hybrid capture-based NGS)
-Bone marrow transplant chimerism testing (short tandem repeat (STR) analysis)
-Quantitative FLT3 D835/I836 & ITD (capillary electrophoresis fragment analysis)
-Minimal Residual Disease (MRD): NPM1 type A (c.860_863dupTCTG), IDH1 R132H, IDH2 R140Q and R172K, KIT D816V (droplet digital PCR)
-Qualitative JAK2 V617F, KIT D816V (droplet digital PCR) -- can be performed on archival tissue
-Quantitative BCR::ABL1 Major (p210) RT-PCR
-Qualitative BCR::ABL1 minor (p190) RT-PCR
Germline Testing
-Huntington disease genetic testing (HTT triplet repeat analysis)
**link to document currently on CMOCO website**
-Thrombophilia genetic testing (single nucleotide polymorphism (SNP) analysis)
-Hemochromatosis genetic testing (SNP analysis)
Other Testing
-Maternal cell contamination testing (STR)
-Sample contamination and identity testing (STR)
-Molar pregnancy testing (STR)