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 600 cancer-associated genes are from whole RNA exome sequencing assay.


Qual.

  1. FFPE Tissue Block
  2. Unstained slides
  3. Bone Marrow Aspirate
  4. Blood

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 from somatic whole exome DNA sequencing, and cancer predisposition variants in 154 genes from whole exome germline normal DNA control (DNA copy number, MSI not on report for now). The fusions detection and report in 600 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 (600 Genes)

Genes for reporting cancer predisposition variants from Clinical Whole Exome Sequencing (154 Genes)