ARUP Laboratories at ACMG 2023

Thursday, March 16, 10:30 a.m.–12 p.m.

(P243) The Utah NeoSeq Project: Developing and Implementing Genomic Sequencing in Acute Neonatal Care
Sabrina Malone Jenkins, Brian J. Shayota, Chelsea Solorzano, Rachel Palmquist, Steven E. Boyden, Barry Moore, Thomas J. Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar J. Hernandez, Shawn Rynearson, Carson Holt, Alistair N. Ward, Najla Al-Sweel, Jian M. Zhao, Makenzie L. Fulmer, Lucilla Pizzo, Ting Wen, John M. O'Shea, Robert G. Lewis, Hayley M. Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron R. Quinlan, John C. Carey, Martin Tristani-Firouzi, Joshua L. Bonkowsky

(P367) The Impact of Modulator Therapies on Lipids and Fatty Acids Profiles in Children and Adolescents with Cystic Fibrosis
Tatiana Yuzyuk, Catherine McDonald, Irene De Biase, Lisa Johnson, Yuan Ji, Nicole Williams, Suzanne Meihls, Fadi Asfour

(P421) AI-Assisted Karyotyping Improves Efficiencies at Scale in the Cytogenetics Laboratory
R. Brian Fedderson, Brandye Tambunga, Gabriel Vitier, Chantry J. Clark, Jian M. Zhao, Erica F. Andersen, Bo Hong

(P499) RNA-Sequencing Positional Gene Enrichment Is a Useful Tool in Resolving Cases of X Chromosome Copy Number Variation
Robert G. Lewis, David H. Viskochil, Ashley Andrews, Karin M. Dent, Rong Mao, Lorenzo D. Botto, Pinar Bayrak-Toydemir

(P525) Laboratory Utilization Management System Assists with Familial Cytogenetic Testing: 3 Case Examples
Amanda S. Openshaw, Rachel M. Lasher, Michelle Q. Bosworth, Danielle LaGrave, Hiba Risheg, Bo Hong

(P541) Updating Patient Results for Genomic CNVs Intersecting Dosage Sensitive Genes on the ACMG Secondary Findings v3.1 List
Zoe K. Lewis, Daniel P. Reich, Denise I. Quigley

(P585) Rapid Genome Sequencing Identifies a De Novo SNAP25 Variant for Neonatal Congenital Myasthenic Syndrome
Ting Wen, Hayley M. Reynolds, Andrew Farrell, Barry Moore, Steven E. Boyden, Thomas J. Nicholas, Shawn Rynearson, Carson Holt, Christine E. Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua L. Bonkowsky, Brian J. Shayota, Sabrina Malone Jenkins, Pinar Bayrak-Toydemir, Rong Mao

(P595) Novel Molecular Mechanism in Malan Syndrome Uncovered Through Detailed Genome Sequencing Reanalysis, Exon-Level Array and RNA-Seq
Jian M. Zhao, Nicola Longo, Robert G. Lewis, Thomas J. Nicholas, Steven E. Boyden, Ashley Andrews, Austin Larson, Pinar Bayrak-Toydemir, Lorenzo D. Botto, Rong Mao

(P613) A Multiplexed Targeted PCR and Single Nucleotide Extension Assay for the 14 Most Common Thanatophoric Dysplasia I and II Mutations
Mohamed Jama, N. Scott Reading, Eric Fredrickson, Yuan Ji

Friday, March 17, 10:30 a.m.–12 p.m.

(P422) Validation of a Digital FISH Analysis Workflow in an Academic Reference Laboratory
Maria C. Longhurst, Emily Aston, Jodi Zockle, Wenhua Zhou, Leslie Rowe, Kimberly Frizzell, Eric Fredrickson, Kathryn R. O’Brien, Marshall Priest, Chantry J. Clark, Bo Hong, Erica F. Andersen

(P462) Importance of Genomic Reanalysis to Uncover Medical Unknowns: A UDN Case with Phenotypic Extension of Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
Makenzie L. Fulmer, Matt Velinder, Ashley Andrews, Russell J. Butterfield, Rong Mao, Kourtney Santucci, Lorenzo D. Botto, Pinar Bayrak-Toydemir

(P500) Reinterpretation of Postnatal Clinical Copy Number Variants: A Practical Approach for Implementation as a Routine Laboratory Practice
Zoe K. Lewis, Daniel P. Reich, Timothy Tidwell, Benjamin I. Clyde, Scott Zobell, Denise I. Quigley, Erica F. Andersen

(P524) Novel Variants in EFL1 Lead to a Potential Diagnosis of Shwachman-Diamond Syndrome 2
John M. O’Shea, Jian M. Zhao, Pinar Bayrak-Toydemir, David H. Viskochil, Ashley Andrews, Lorenzo D. Botto, Rong Mao

(P536) 2q11.2 Recurrent CNVs Including TMEM127 – A Collaborative Multi-Center Study to Expand Knowledge of Neurodevelopmental Phenotypes and Pheochromocytoma/Paraganglioma Syndrome Predisposition
Lucilla Pizzo, Zoe K. Lewis, Lauren K. Walsh, Cassandra K. Runke, Margit Nõukas, Katrin Männik, Neeme Tõnisson, Eric C. Thorland, Christa L. Martin, Katie Rudd, Erica F. Andersen

(P542) Overcoming Polymer-Induced Variation in Fragile X and Huntington Disease Repeat Expansion Assays
N. Scott Reading, Mohamed Jama, Pinar Bayrak-Toydemir, Hunter Best, Eric Fredrickson, Makenzie L. Fulmer, Rong Mao, Sherin Shaaban, Yuan Ji

(P544) 3q28 Microdeletions Involving TP63 Are Associated with Cleft Lip/Palate in a Size- and Position-Dependent Manner
Daniel P. Reich, Amanda S. Openshaw, Michele Garcia, Inder Gadi, Madelena Martin, Hiba Risheg, Bo Hong

(P548) Partial Duplications of Haploinsufficient Genes: Always a VUS?
Katie Rudd, Jian M. Zhao, Zoe K. Lewis, Bo Hong, Erica F. Andersen

(P574) Molecular Diagnosis of Prader-Willi and Angelman Syndromes Using Methylation-Specific MLPA
Jessica N. Toth, Melinda Procter, Anastasia Pflaum, Eric Fredrickson, Rong Mao

(P580) Genetic Counseling Assistants in the Laboratory: Scope of Work and Career Ladder at ARUP Laboratories
Rachel M. Lasher, Lauren Wallace, Cassie Z. Vaughn, Mike Graczyk, Karianne Herdman

(P598) Prenatal Cytogenetic Test Review Adds Value to Clinical Care – Illustrated by Example Cases
Danielle LaGrave, Rachel M. Lasher, Michelle Q. Bosworth, Amanda S. Openshaw, Katie Rudd, Erica F. Andersen

(P602) Impact of NIPS Outside of Scope Reporting on Fetal and Maternal Cytogenetic Testing
Hannah Anderson, Erica F. Andersen, Katie Rudd, Ting Wen, Michelle Q. Bosworth