Ambiguous neoplasms: diagnosis, demonstration of melanosomes, junctional complexes, cilia, etc | EM

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.

AML panel | FISH

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)

Androgen Receptor (AR) | IHC

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

Aneuscreen (constitutional) | FISH

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

Aneuscreen (prenatal) | FISH

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

API2/MALT1 _ t(11;18) | FISH

Detects 11;18 translocation

Arrhythmia panel | NGS

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.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) Panel | NGS

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.

ATM _ 11q22.3 | FISH

Detects rearrangements at 11q22.3

Atypical Diabetes and ER Stress Disorders Gene Panel | NGS

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.