Each year, the ARUP Institute for Clinical and Experimental Pathology® presents at more than 200 conferences, workshops, annual meetings, and symposiums for several national and international organizations. Recent posters and presentations are listed below.
American Society for Apheresis (ASFA)
Minneapolis, MN, April 26–28, 2023
Jung Y, Nelson HA, Huang JC, Popelka M, Paac R, Zehner J, Campos M, Linn N, Lin DM. Use of therapeutic plasma exchange to treat lipoproteinemia X in a patient with drug-induced vanishing bile duct syndrome presenting with hypercholesterolemia and pseudohyponatremia.
American Academy of Neurology (AAN)
Boston, MA, April 22–27, 2023
Smith T, Peterson LK—Presentation
Smith T, Wong K-H, Peterson LK, Carlson N, Rose J, Horvat D, Groshans K, Mabila S, Pittock S, Tagg N, Clardy S. Presymptomatic aquaporin-4 (AQP4) autoantibody seropositivity in NMOSD: Analysis of the Department of Defense serum repository (DoDSR).
Peterson LK, Smith T—Poster
Wright MA, Liu S, Wong K-H, Gilandehi SN, Shapiro S, Smith T, Peterson LK, Clardy S. Diagnostic challenges in pediatric anti-NMDA receptor encephalitis.
American Association for Cancer Research (AACR)
Orlando, FL, April 14–19, 2023
Hellwig S, Goold E, Bronner M—Poster
Underhill H, Karsy M, Davidson C, Hellwig S, Stevenson S, Vincenti S, Dean C, Harrison B, Goold E, Bronner M, Colman H, Jensen R. True2 duplex sequencing reveals a diverse landscape of unique somatic mutations beyond the surgical margins of high- and low-grade diffuse gliomas.
Mass Spectrometry: Applications to the Clinical Laboratory (MSACL)
Monterey, CA, April 2–7, 2023
Sinden L, Kushnir MM, Frank EL—Poster
Sinden L, Kushnir MM, Frank EL. LC-MS/MS method for measurement of porphobilinogen in urine.
Kushnir MM, Doyle K—Presentation
Kushnir MM, Doyle K. Free or total testosterone? Assessment of androgens status in post-menopausal females.
Kushnir MM. Is there a better way to plan and perform experiments? Introduction to experimental design.
Ray JA, Vachali P, Straseski JA, Kushnir MM, McMillin G, Doyle K—Poster
Ray JA, Vachali P, Straseski JA, Kushnir MM, McMillin G, Doyle K. High sensitivity measurement of free T4 in serum by equilibrium dialysis-LC-MS/MS.
Ross MJ, Ray JA. Determination of free thyroxine from human serum using BioSPME sample preparation prior to LC-MS/MS analysis.
Society for Inherited Metabolic Disorders (SIMD)
Salt Lake City, UT, March 18–21, 2023
Ingoglia F, Pasquali M—Poster
Ingoglia F, Tanfous M, Ellezam B, Anderson KJ, Pasquali M, Botto L. MADD-like pattern in plasma acylcarnitine profile associated with sertraline use.
American College of Medical Genetics and Genomics (ACMG)
Salt Lake City, UT, March 14–18, 2023
Toth JN, Procter M, Pflaum A, Fredrickson E, Rudd K, Mao R—Poster
Toth JN, Procter M, Pflaum A, Fredrickson E, Rudd K, Mao R. Molecular diagnosis of Prader-Willi and Angelman syndromes using methylation-specific MLPA.
Reading NS, Jama MA, Bayrak-Toydemir P, Best H, Frederickson E, Fulmer ML, Mao R, Shaaban S, Ji Y—Poster
Reading NS, Jama MA, Bayrak-Toydemir P, Best H, Frederickson E, Fulmer ML, Mao R, Shaaban S, Ji Y. Overcoming polymer- induced variation in Fragile X and Huntington Disease repeat expansion assays.
Wen T, Bayrak-Toydemir P, Mao R—Poster
Wen T, Reynolds H, Farrell A, Moore B, Boyden S, Nicholas T, Rynearson S, Holt C, Miller C, Noble K, Bentley D, Palmquist R, Ostrander B, Manberg S, Bonkowsky J, Shayota B, Malone Jenkins S, Bayrak-Toydemir P, Mao R. Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
O'Shea JM, Zhao J, Bayrak-Toydemir P, Mao R—Poster
O'Shea JM, Zhao J, Bayrak-Toydemir P, Viskochil DH, Andrews A, Botto LD, Mao R. Novel variants in EFL1 lead to a potential diagnosis of Shwachman-Diamond Syndrome 2.
Jama M, Reading NS, Fredrickson E, Ji Y—Poster
Jama M, Reading NS, Fredrickson E, Ji Y. A multiplexed targeted PCR and single nucleotide extension assay for the 14 most common thanatophoric dysplasia I and II mutations.
Lewis RG, Mao R, Bayrak-Toydemir P—Poster
Lewis RG, Viskochil D, Andrews A, Dent KM, Mao R, Botto LD, Bayrak-Toydemir P. RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation.
Fedderson B, Tambunga B, Vitier G, Clark C, Zhao J, Andersen E, Hong B—Poster
Fedderson B, Tambunga B, Vitier G, Clark C, Zhao J, Andersen E, Hong B. AI-assisted karyotyping improves efficiencies at scale in the cytogenetics laboratory.
Lewis Z, Reich DP, Clyde B, ZoBell S, Quigley DI, Andersen EF—Poster
Lewis Z, Reich DP, Clyde B, ZoBell S, Quigley DI, Andersen EF. Reinterpretation of clinical copy number variants: a practical approach for implementation as a routine laboratory practice.
Rudd K, Zhao J, Lewis Z, Hong B, Andersen E—Poster
Rudd K, Zhao J, Lewis Z, Hong B, Andersen E. Partial duplications of haploinsufficient genes: always a VUS?
Pizzo L, Lewis Z, Rudd K, Andersen E—Poster
Pizzo L, Lewis Z, Walsh L, Runke C, Nõukas M, Mannik K, Tõnisson N, Thorland E, Martin CL, Rudd K, Andersen E. 2q11.2 recurrent CNVs including TMEM127 - a collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition.
LaGrave D, Lasher R, Bosworth M, Openshaw AS, Rudd K, Andersen EF—Poster
LaGrave D, Lasher R, Bosworth M, Openshaw AS, Rudd K, Andersen EF. Prenatal cytogenetic test review adds value to clinical care - illustrated by example cases.
Anderson H, Andersen EF, Rudd K, Wen T, Bosworth M—Poster
Anderson H, Andersen EF, Rudd K, Wen T, Bosworth M. Impact of NIPS outside of scope reporting on fetal and maternal cytogenetic testing.
Zhao J, Longo N, Lewis RG, Nicholas TJ, Bayrak-Toydemir P, Botto LD, Mao R—Poster
Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Bayrak-Toydemir P, Botto LD, Mao R. Novel molecular mechanism in Malan Syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq.
Reich DP, Openshaw AS, Risheg H, Hong B—Poster
Reich DP, Openshaw AS, Garcia M, Gadi I, Martin M, Risheg H, Hong B. 3q28 microdeletions involving TP63 are associated with cleft lip/palate in a size- and position-dependent manner.
Openshaw AS, Lasher RM, Bosworth MQ, LaGrave D, Risheg H, Hong B—Poster
Openshaw AS, Lasher RM, Bosworth MQ, LaGrave D, Risheg H, Hong B. Laboratory utilization management system assists with familial cytogenetic testing: 3 case examples.
Lewis ZK, Reich DP, Quigley DI—Poster
Lewis ZK, Reich DP, Quigley DI. Updating patient results for genomic CNVs intersecting dosage sensitive genes on the ACMG secondary findings v3.1 list.
Herdman K, Lasher R, Wallace L, Vaughn C, Graczyk M—Poster
Herdman K, Lasher R, Wallace L, Vaughn C, Graczyk M. Genetic counseling assistants in the laboratory: scope of work and career ladder at ARUP Laboratories.
Longhurst M, Aston E, Zockle J, Zhou W, Rowe L, Frizzell K, Fredrickson E, O'Brien K, Priest M, Clark C, Hong B, Andersen E—Poster
Longhurst M, Aston E, Zockle J, Zhou W, Rowe L, Frizzell K, Fredrickson E, O'Brien K, Priest M, Clark C, Hong B, Andersen E. Validation of a digital FISH analysis workflow in an academic reference laboratory.
APHL ID Lab Con 2023
Atlanta, GA, March 13–15, 2023
Couturier MR, Mathison BA—Presentation
Couturier MR, Mathison BA, Bishop H. Parasitology diagnostic workshop.
Shakir SM. Rapid detection of mycobacterium tuberculosis complex from positive MGIT broth cultures using the Cepheid Xpert MTB/RIF assay: potential workflow optimization based on cording and time to positivity.
United States and Canadian Academy of Pathology (USCAP)
New Orleans, LA, March 11–16, 2023
Wolf A, Witt B—Poster
Hansen ED, Wolf A, Witt B. Cytopreparatory method for optimizing vitreous fluid aspirates.
Wilcock DM. Digitizing HER2 fluorescence in-situ hybridization (FISH): a practical guide.
Wilcock DM, Sirohi D, Lomo LC, Albertson D, Jedrzkiewicz J, Mahlow J, Ruano A, Cleary AS, Balatico M, Gulbahce HE—Poster
Wilcock DM, Sirohi D, Lomo LC, Albertson D, Jedrzkiewicz J, Mahlow J, Ruano A, Cleary AS, Balatico M, Gulbahce HE. Invasive breast carcinoma with micropapillary features: HER2 status following 2018 American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) guidelines and clinicopathologic features.
Sirohi D, Knudsen B—Poster
Sirohi D, Jo YJ, Knudsen B. Dysregulation of genetic pathway in histological growth patterns of clear cell renal cell carcinomas.
Albertson D, Mahlow J, Liu T, Barry M, Sirohi D—Poster
Albertson D, Mahlow J, Liu T, Barry M, Sirohi D. Genotype phenotype correlation of renal tumor in the Cancer Genome Atlas Database.
Hellwig S, Lin L, Bronner MP, Evason KJ—Poster
Ergin HE, Miscik N, Chung S, Hellwig S, Bronner MP, Lin L, Evason KJ. TERT promoter mutations are frequently detected by Droplet Digital PCR in hepatocellular carcinoma but not in other cirrhotic nodules.
Frontiers in Addiction Research and Pregnancy
San Diego, CA, February 26–March 4, 2023
McMillin G. Laboratory testing to detect drug-exposed newborns.
Annual Park City Anatomic Pathology Update
Park City, UT, February 5–9, 2023
Alnoor, Ohgami R, Li P—Poster
Alnoor, Ohgami R, Li P. Acute Myeloid Leukemia (AML).
Seegene Webinar Series
Salt Lake City, UT, February 15, 2023
Mathison BA, Butler-Wu S, Bradbury RS. Diagnostic parasitology—As-is and to-be, a roundtable on the future.
The Society for Maternal Fetal Medicine Annual Pregnancy Meeting (SMFM)
San Francisco, CA, February 6-11, 2023
Moyle KA, Peterson LK, Guerra MM, Kim M, Allshouse AA, Benson AE, Salmon JE, Branch DW. Anti-β2 glycoprotein-1 domain 1 antiphospholipid antibodies as a marker for adverse pregnancy outcomes.
American Society of Hematology (ASH)
New Orleans, LA, December 10–13, 2022
Kanack A, Leger R, Saadalla A, Heikal NM, Chen D, Garcia D, Pruthi RK, Padmanabhan A. Autoimmune HIT, a potential diagnostic artifact due to remnant heparin in HIT samples, is not associated with more severe outcomes.
Saadalla A, Chen D, Pruthi R, Heikal N, Snyder M, Ashrani A, Seheult J. The lupus anticoagulant titer is associated with elevated antiphosphatidyl-serine/prothrombin antibody levels.
Clinical Diagnostics and Research
Virtual, November 9, 2022
Pandya V. Tumor markers as cancer screening and surveillance tools.
Annual Current Issues in Anatomic Pathology
San Francisco, CA, November 4, 2022
Ohgami R. Practical issues in molecular testing of lymphomas.
Association for Molecular Pathology (AMP)
Phoenix, AZ, November 1–5, 2022
Szankasi P, Kellogg A, Bolia A, Paxton C, O'Fallon B, Rindler P, Close D, Li P, Patel JL—Poster
Szankasi P, Kellogg A, Bolia A, Paxton C, O'Fallon B, Rindler P, Close D, Li P, Patel JL. Performance comparison of a capture-based oncology NGS panel with SNP array and FISH for the detection of genome-wide copy number variants and copy number neutral loss of heterozygosity.
American Society of Human Genetics (ASHG)
Los Angeles, CA, October 25–29, 2022
O'Fallon BD, Durtschi J, Bolia A, Yang L, Noble K, Fredrickson E, Coleman J, Best H—Poster
O'Fallon BD, Durtschi J, Bolia A, Yang L, Noble K, Fredrickson E, Coleman J, Best H. NGS variant detection as a sequence-to-sequence modeling problem.
American Society for Histocompatibility and Immunogenetics (ASHI)
Las Vegas, NV, October 24–28, 2022
Jain D, Profaizer T, Lazar-Molnar E—Poster
Jain D, Ellinger L, Profaizer T, Lazar-Molnar E. Assessment of clinical utility of next generation sequencing assay for chimerism analysis.
International Clinical Cytometry Society (ICCS)
Montreal, Quebec Canada, October 21–25, 2022
Ng DP, Loghavi S. Technical and diagnostic considerations in eosinophils, mast cells, basophils and PDCs by flow cytometry: part 1.
Ng DP. A review of AI in clinical flow cytometry.
Lin L. Experience with the BD FACSDuetTM sample preparation system in a high-volume reference laboratory.
Ventura MF, Andreasen J, Delgado J, Lin L—Poster
Ventura MF, Andreasen J, Delgado J, Lin L. Experience with the BD FACSDuet sample preparation system in a high-volume reference laboratory.
Washington, DC, October 19–23, 2022
Mathison BA. AI for the enhanced detection of intestinal protozoans.
Australasian Association for Clinical Biochemistry Annual Scientific Conference
Perth, Australia, October 18–20, 2022
Jackson BR. Artificial intelligence in the clinical pathology laboratory.
Las Vegas, NV, October 16–18, 2022
Liew M, Rowe L, Moore K, Brooks M, Aston E, O Brien KR, Longhurst M, Wilcock D, Kenney J, Priest M, Rets AR, Miles R—Poster
Liew M, Rowe L, Moore K, Brooks M, Aston E, O Brien KR, Longhurst M, Wilcock D, Kenney J, Priest M, Rets AR, Miles R. Validation of Rapid MYC and BCL6 break apart digital fluorescence in situ hybridization assays.
College of American Pathologists (CAP)
New Orleans, LA, October 8–11, 2022
Wilcock DM, Moore K, Rowe LR, Gulbahce EH, Sirohi D—Poster
Wilcock DM, Moore K, Rowe LR, Gulbahce EH, Sirohi D. Quantitative image analysis of HER2 fluorescence in-situ hybridization: need for standardization.
Luo MX, Ng DP, Rets A, Menon MP—Poster
Luo MX, Ng DP, Rets A, Menon MP. Clinicopathologic characteristics of CD5+ and/or CD10+ MYD88 mutated lymphoplasmacytic lymphoma.
HHT International Scientific Conference
Estoril, Cascais, Portugal, September 29–October 2, 2022
DeMille D, McDonald J, Bayrak-Toydemir P—Presentation
DeMille D, McDonald J, Bernabéu C, Dupuis-Girod S, Ganguly A, Giraud S, Ichikawa S, Jessen J, Jovine L, Kasthuri RS, Olivieri C, Ploos van Amstel HK, Racher H, Shovlin CL, Bayrak-Toydemir P. ClinGen HHT variant curation expert panel's modified variant interpretation and classification guideline.