Molecular Pathology Test Directory Laboratory of Pathology
Test Name | Assay Description | Assay Type | Specimen Type Accepted | Category/Use |
|---|---|---|---|---|
B Cell Clonality | Immunoglobulin (IGH and IGK) gene rearrangements (PCR/Capillary Electrophoresis) | Qual. | Liquid Specimen: 1. Blood 2. Bone Marrow 3. CSF 4. Plural Fluid FFPE Tissue Block or Unstained slides Cytology | Hematopathology |
T Cell Clonality | T cell receptor gamma locus (TRG) gene rearrangements (PCR/Capillary Electrophoresis) | Qual. | ||
EBV (EBNA2) | Lymphoma-associated virus detection (real-time qPCR) | Qual. | ||
HHV8 | Viral detection (PEL, Castleman's disease, Kaposi’s Sarcoma (real-time qPCR) | Qual. | ||
HTLV-I (Pol) | Human T-cell leukemia virus detection (real-time qPCR) | Qual. | ||
BRAF V600E Mutation | BRAF c.1799T>A, V600E mutation detection. (droplet-digital PCR, high sensitivity assay at 0.05% for liquid specimen and 0.1% for tissue) | Qual. | ||
MYD88 L265P Mutation | MYD88 c.794T>C, p.L265P mutation detection. (droplet-digital PCR, high sensitivity assay at 0.05% for liquid specimen and 0.1% for tissue) | Qual. | ||
TruSight Oncology 500 (TSO500) | Illumina Next-generation Sequencing (NGS) cancer panel. Detects most clinically relevant mutations, including single nucleotide variants, small insertions and deletions, copy number variations from 532 unique cancer genes, and report the biomarkers of TMB and MSI. The fusions detection and report in 648 cancer-associated genes are from whole RNA exome sequencing assay. | Qual. |
| All Cancer COMPASS |
BRAF V600E Mutation | BRAF c.1799T>A, V600E mutation detection. (droplet digital PCR, high sensitivity assay at 0.1% for tissue) | Qual. | FFPE Tissue Block or Unstained slides Cytology | Erdheim-Chester Disease, Papillary Thyroid Carcinoma |
MGMT Methylation | Methylation Microarrays | Qual. | FFPE Tissue Block or Unstained slides | Glioblastoma |
| Clinical Whole Exome Sequencing | Illumina Next-generation Sequencing (NGS) of tumor/normal specimens. Currently report SNVs, Indels, TMB, CNV of 459 genes from somatic whole exome DNA sequencing, and cancer predisposition variants in 154 genes from whole exome germline normal DNA control. The fusions detection and report in 648 cancer-associated genes are from whole RNA exome sequencing assay. | Qual. | Tumor: FFPE Tissue Block or Unstained slides Normal control: blood, saliva, or buccal swab | Solid Tumors COMPASS |
TSO500 DNA Assay Gene Panel (532 Genes)
RNA Exome Fusion Panel (648 Genes)
Genes for reporting cancer predisposition variants from Clinical Whole Exome Sequencing (154 Genes)
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