P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels by Lotta Koskinen, Margarita Andreevskaya, Mikko Muona, Tuuli Pietila, Janica Djupsjöbacka, Ville Kytölä, Kati Kämpjärvi, Samuel Myllykangas, Pertteli Salmenperä, Juha Koskenvuo, Miko Valori

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P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform by Fabio Fuligni, Robert Thaenert, Aidan Hennigan, Duncan Kilburn, Valeriya Gaysinskaya, Egor Dolzhenko, Guilherme De Sena Brandine, Sarah Kingan, Jason Evans, Danuta Hietpas, Hannah White, Tamara Smith, Timothy Looney, Ray Veeraraghavan, Tina Hambuch-Hawks, Christopher Elzinga, Meaghan Russell

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P398: Effects of Hurricane Maria and the COVID-19 pandemic on genetic testing at a diagnostic reference laboratory in Puerto Rico by Rebecca Nakles-Taylor, Elinette Albino, David Tsao, Rebecca Chen, Camille Nery, Izabela Karbassi, Arlene Buller-Burckle

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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients by Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

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P650: Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older? by Zoe Powis, Khalida Liaquat, Marc Meservey, Judy Louie, Sat Dev Batish

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P271: Beyond SMN1: Review of genotype-phenotype correlation in individuals with ≥4 SMN2 copy numbers by Zoe Powis, Meagan Nashawaty, Andrea Paal, Khalida Liaquat

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P531: The utility of exome sequencing for neurodevelopmental disorders at a large reference laboratory by Kailey Owens, Jonathon Lutz, Zoe Powis

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P753: Additional significant findings in individuals with Ashkenazi Jewish founder variants by Michele Basiliere, Erin Nordquist, Elaine Weltmer

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Clinical utility of plasma Aβ42/40 ratio by LC-MS/MS in Alzheimer’s disease assessment by Darren M. Weber, Steven W. Taylor, Robert J. Lagier, Jueun C. Kim, Scott M. Goldman, Nigel J. Clarke, David E. Vaillancourt, Ranjan Duara, Ranjan Duara, Karen N. McFarland, Wei-en Wang, Todd E. Golde, Todd E. Golde, Michael K. Racke

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P511: Evaluation of population frequency data for mitochondrial variant interpretation by Glenn Maston, Pernilla von Nandelstadh, Sari Tuupanen, Izabela Karbassi, Juha Koskenvuo

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Plasma arginine levels in arginase deficiency in the “real world” by Pranoot Tanpaiboon, Yue Huang, Judy Z. Louie, Rajesh Sharma, Stephen Cederbaum, Denise Salazar

“…Method: In this study, we reported plasma arginine levels from 51 patients with arginase-1 deficiency in the database of Quest Diagnostics. The samples were collected from different US regions. …”
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Zosteriform eruption in an adult male by Kaviyon Sadrolashrafi, BS, Narciss Mobini, MD

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NGS-defined measurable residual disease (MRD) after initial chemotherapy as a prognostic biomarker for acute myeloid leukemia by Yonghong Li, Jose Solis-Ruiz, Fei Yang, Nicola Long, Carmen H. Tong, Felicitas L. Lacbawan, Frederick K. Racke, Richard D. Press

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Alopecia and cutaneous atrophy due to occipital nerve block containing steroids by Kaviyon Sadrolashrafi, BS, Robert Lieberman, MD, Narciss Mobini, MD

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Predictors of lack of glycemic control in persons with type 2 diabetes by Judy Z. Louie, Dov Shiffman, Charles M. Rowland, Norma S. Kenyon, Ernesto Bernal-Mizrachi, Michael J. McPhaul, Rajesh Garg

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Critical need to assess modified and un-modified peptides in C-peptide standard materials by Zengru Wu, Kuanysh Kabytaev, Jianying Mu, Shawn Connolly, Nigel J. Clarke, Randie Little, Michael J. McPhaul

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Opt‐in for secondary findings as part of diagnostic whole‐exome sequencing: Real‐life experience from an international diagnostic laboratory by Minna Brunfeldt, Milja Kaare, Inka Saarinen, Juha Koskenvuo, Helena Kääriäinen

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Prediction of Future Medical Costs by Modifiable Measures of Health by Haji-Sheikhi F, Fragala MS, Bare LA, Rowland CM, Goldberg SE

“…Farnoosh Haji-Sheikhi, Maren S Fragala, Lance A Bare, Charles M Rowland, Steven E Goldberg Quest Diagnostics, Secaucus, NJ, USACorrespondence: Maren S Fragala, Quest Diagnostics, 500 Plaza Dr, Secaucus, NJ, 07094, USA, Tel +1 508 728 2923, Email Maren.S.Fragala@QuestDiagnostics.comIntroduction: Strategies to mitigate rising health-care costs are a priority for patients, employers, and health insurers. …”
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SARS-CoV-2 spike-protein targeted serology test results and their association with subsequent COVID-19-related outcomes by Harvey W. Kaufman, Stanley Letovsky, William A. Meyer, Laura Gillim, Magdalene M. Assimon, Carly A. Kabelac, John W. Kroner, Shannon L. Reynolds, Marcia Eisenberg

“…SARS-CoV-2 testing was performed by two large United States-based reference clinical laboratories, Labcorp® and Quest Diagnostics, and was linked to medical insurance claims, including vaccination receipt, through the HealthVerity Marketplace. …”
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Pain in Multiple Sclerosis: Understanding Pathophysiology, Diagnosis, and Management Through Clinical Vignettes by Michael K. Racke, Elliot M. Frohman, Teresa Frohman

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