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PDGF - Overview: PDGFB (22q13), Dermatofibrosarcoma Protuberans/Giant Cell Fibroblastoma, FISH, Tissue

Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma),...

ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer

MCMLN - Overview: MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor

Determining if patients will respond to targeted therapy Assessing microsatellite instability for immunotherapy decisions

GLIOF - Overview: 1p/19q Deletion in Gliomas, FISH, Tissue

Aids in diagnosing oligodendroglioma tumors and predicting the response of an oligodendroglioma to therapy May be useful in tumors with a complex "hybrid" morphology requiring differentiation from pure astrocytomas to support the presence...

PIK3T - Overview: PIK3CA Mutation Analysis, Tumor

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

PPFE - Overview: Protoporphyrins, Fractionation, Whole Blood

Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

JAKXM - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Bone Marrow

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being entertained; for use with bone marrow specimens

GCTF - Overview: Germ Cell Tumor (GCT), Isochromosome 12p, FISH, Tissue

Supporting the diagnosis of germ cell tumors when used conjunction with an anatomic pathology consultation

NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes

Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...

VLTU - Overview: Volatile Screen, Random, Urine

Detecting the presence of acetone, methanol, isopropanol, or ethanol in urine with subsequent quantitation

PTRIP - Overview: Prostate Triple (P63/KRT/P504S), Technical Component Only

Aiding in the identification of high-grade prostatic intraepithelial neoplasia and prostate cancer

VLTS - Overview: Volatile Screen, Serum

Detection and quantitation of acetone, methanol, isopropanol, and ethanol in serum Quantification of the concentration of ethanol in serum correlates with degree of intoxication Evaluation of toxicity to the measured volatile substances

EWSF - Overview: Ewing Sarcoma, 22q12 (EWSR1) Rearrangement, FISH, Tissue

Detection of EWSR1 rearrangements irrespective of the EWSR1 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, Ewing sarcoma, extraskeletal myxoid chondrosarcoma, desmoplastic small round cell...

IMTF - Overview: Inflammatory Myofibroblastic Tumors (IMT), 2p23 (ALK) Rearrangement, FISH, Tissue

Supporting the diagnosis of inflammatory myofibroblastic tumors when used conjunction with an anatomic pathology consultation

EOSMF - Overview: Chronic Eosinophilia, Specified FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1) using specified...

IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy

NGAML - Overview: MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies

Evaluation of acute myeloid leukemia using a focused 11-gene panel at the time of diagnosis, or possibly at the time of relapsed/refractory disease, to help guide classification and possible therapeutic approaches

LCMSP - Overview: Microsporidia species, Molecular Detection, PCR, Varies

Detecting Enterocytozoon bieneusi and Encephalitozoon species in fecal and urine specimens to support the clinical diagnosis of microsporidiosis

FOXOF - Overview: Alveolar Rhabdomyosarcoma (ARMS), 13q14 (FOXO1 or FKHR) Rearrangement, FISH, Tissue

Supporting the diagnosis of alveolar rhabdomyosarcomas when used in conjunction with an anatomic pathology consultation

CEE20 - Overview: CD20 Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD20 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...

CEE49 - Overview: CD49d Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD49d Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...

CEE52 - Overview: CD52 Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD52 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...

F5DNA - Overview: Factor V Leiden (R506Q) Mutation, Blood

Patients with clinically suspected thrombophilia and: 1. Activated protein C (APC)-resistance either proven or suspected by a low or borderline APC-resistance ratio or 2. A family history of factor V Leiden

THIO - Overview: Thiopurine Metabolites, Whole Blood

Aids physicians in dose adjustments, minimizing dose-dependent toxicity, and monitoring compliance of thiopurine drug therapy

NGAMT - Overview: MayoComplete Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Next-Generation Sequencing, Varies

Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help guide possible therapeutic approaches

TGOGF - Overview: TGFBR3 (1p22), OGA (10q24) Rearrangement, FISH, Tissue

Supporting the diagnosis of pleomorphic hyalinizing angiectatic tumor, or hemosiderotic fibrolipomatous tumors associated with rearrangement of the OGA and/or TGFBR3 gene when used in conjunction with an anatomic pathology consultation

DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue

Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13

ALKOT - Overview: Anaplastic Lymphoma Kinase (ALK [OTI1A4]) Immunostain, Technical Component Only

Identification of anaplastic lymphoma kinase overexpression Diagnosis of inflammatory myofibroblastic tumor and anaplastic large cell lymphoma

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Laboratory and pathology research roundup: August 30 - Insights

This week's research roundup features: Kidney biopsy chronicity grading in antineutrophil cytoplasmic antibody-associated vasculitis...

Visit Mayo Clinic Laboratories at the APA Annual Meeting - Insights

Visit Mayo Clinic Laboratories at booth #2047 to learn about our comprehensive therapeutics test offerings. Developed by board-certified experts in clinical chemistry, molecular, and toxicology testing...