Technique

Detects deletions of 1p36

Detects deletions of 19q13

Detects loss of 22q (using EWSR1)

Detection of Acid - fast bacilli

Alpha smooth muscle isoforms, myoepithelium etc.

Acid mucopolysaccharides

Acid and neutral mucins

Detects rearrangements of 2p23 and single red 3' ALK (FFPE: IVD probe kit)

It is expressed in only few cells in the developing and mature nervous system Ð glial cells, neurons, endothelial cells and pericytes.

A variety of clinical EM services are offered by the Electron Microscopy Facility which includes preparation of one micron thick toluidine blue stained plastic sections and ultrathin sections in anticipation of routine transmission electron microscopy. Digital images and expert diagnostic interpretation are provided by members of the Divisions of Anatomic and Molecular Pathology and Neuropathology in the Department of Pathology and Immunology.

Detects common gene rearrangements associated with AML: PML/RARA t(15;17), RUNX1/RUNX1T1 t(8;21), CBFB inv(16), KMT2A (MLL) 11q23, CEP8, D7S486 -7/del(7), EGR1 -5/del(5)

Detection of androgen receptors.  Primarily used in carcinomas of the breast and prostate.

AneuVysion Multicolor DNA Probe Kit detects aneuploidy of chromosomes 13, 18, 21, X and Y

AneuVysion Multicolor DNA Probe Kit detects aneuploidy of chromosomes 13, 18, 21, X and Y

Detects 11;18 translocation

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the KCNH2, KCNQ1, RYR2 and TRDN genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the DSP and PKP2 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Detects rearrangements at 11q22.3

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the HNF1B gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Detects common gene rearrangements associated with B-cell ALL: ETV6/RUNX1 t(12;21), BCR/ABL t(9;22), KMT2A (MLL) 11q23, CEP4, 10, 17, TCF3 t(1;19)/t(17:19), CDKN2A del(9)(p21), IGH 14q32

Follicular lymphoma, other B and T cell lymphomas, soft tissue tumors

Follicular lymphoma, follicular center B cells, DLBCL subset

Detects rearrangements at 18q21

Detects rearrangements of 3q27

Detects 9;22 translocation, Ph+ (Philadelphia chromosome)

Detection of the antigen in postmortem, formalin fixed and paraffin embedded tissue

Fibromatosis, colorectal carcinoma

Demonstration of Bile pigments

Detection of BK (SV40 family) virus in post-transplant kidney

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.

Gastrointestinal stromal tumors, mast cells

Detects rearrangements and amplification at 8q24

Used to aid in the characterization of lymphoma.

Pancreas, GI, ovary, lung and transitional cell carcinoma

Non-mucinous ovarian carcinoma, serous and endometroid adenocarcinomas

Thyroid medullary carcinoma, thyroid C cells

Normal and reactive mesothelium, mesothelioma and distinguishing mesothelioma from adeocarcinoma

Detects aneuploidy, rearrangements, deletions, inversions

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the ALMS1, BGN, DSP, KCNH2, KCNQ1, PKP2, RYR2 and TRDN genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the ALMS1, DSP and PKP2 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants. 

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the RYR2 and TRDN genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Detects inv(16) and t(16;16)

Detects 11;14 translocation