Conference Presentations by Medical Specialty - Genetics

Below is a listing of recent posters and presentations by Quest Diagnostics medical and scientific staff.

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Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

Authors: Scocchia A, Kangas-Kontio T, Pelttari L, Gall K, Saarinen I, Sistonen J, Koskenvuo J, Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics

A Comprehensive Analysis of Synthetic Samples for Detecting Medically Relevant Genomic Variants

Quest Diagnostics Authors: Bhattacharya, A, Elzinga, C, Gerasimova, A, Grupe, A, Lacbawan, F, Moler, E, Owen, R, Rosenthal, SH
Authors: Bhattacharya A, Rosenthal SH, Grupe A, Gerasimova A, Kazmierkiewicz K, Chong H, Lapierre J, Nakles R, Cheng L, Smolgovsky A, Renius Owen R, Elzinga C, Chen R, Moler E, Lacbawan F
Event: AGBT 2021: Advances in Genome Biology and Technology 2021. Virtual [in-person conference canceled], March 1 - 4, 2021

Specialties: Genetics

Moving in the fast lane: test design and validation to produce up-to-date hereditary breast and gynecologic cancer tests

Quest Diagnostics Authors: Bhattacharya, A, Cheng, L, Chong, HK, Elzinga, C, Gerasimova, A, Grupe, A, Hodko, D, Lacbawan, F, Nakles-Taylor, R, Nery, C, Owen, R, Rowland, C, Smolgovsky, A, Weltmer, E, Zhang, K
Authors: Angeloni TG, Bhattacharya A, Cheng LL, Chong HK, Conlan KM, Elzinga CD, Gerasimova A, Grover D, Grupe A, Hua M, Hodko D, Kazmierkiewicz K, Nakles RE, Nery CR, Owen R, Root DM, Rowland CM, Smolgovsky A, Weltmer EC, Zhang K, Lacbawan FL
Event: SABCS 2020: San Antonio Breast Cancer Symposium. Virtual [in-person conference canceled], December 8 - 12, 2020

Specialties: Genetics, Oncology, Women's Health/OB/GYN

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A Retrospective Study of Product of Conception with more than 40,000 Specimens in 27 years at a National Cytogenetic Reference Laboratory

Quest Diagnostics Authors: Meng, H, Schonberg, S
Authors: Meng H, Mowrey P, and Schonberg S
Event: AMP2020: 2020 Association for Molecular Pathology Annual Meeting & Expo. Virtual [in-person conference canceled], November 19 - 21, 2020

Specialties: Genetics, Women's Health/OB/GYN

Detection of actionable alterations in breast and ovarian tumor tissues by a 50-gene NGS panel testing

Quest Diagnostics Authors: Acab, AJ, Grupe, A, Lacbawan, F, Ma, C, Racke, FK
Authors: Rosenthal SH, Ma C, Acab A, Grupe A, Van Ness M, Sugganth D, Racke F, Lacbawan F
Event: AMP2020: 2020 Association for Molecular Pathology Annual Meeting & Expo. Virtual [in-person conference canceled], November 19 - 21, 2020

Specialties: Genetics, Oncology

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project

Quest Diagnostics Authors: Muralidharan, K, Prior, TW
Authors: Prior TW, Bayrak-Toydemir P, Mao R, Metcalf JD, Muralidharan K, Qureshi S, Requesens D, Shen J, Pratt V, Lynnes TC, Otsubo A, Vetrini F, Kalman L
Event: AMP2020: 2020 Association for Molecular Pathology Annual Meeting & Expo. Virtual [in-person conference canceled], November 19 - 21, 2020

Specialties: Genetics, Neurology

Prenatal Theoretical Diagnostic Yield of a Rapid, Targeted Genetic Panel Designed for Critically ill Pediatric Patients

Authors: Stachiw-Hietpas DL, Kucera CR, Partack EJ, Witherington SE, Hahn SE, Tanpaiboon P, Mullen TE
Event: NSGC 2020: National Society of Genetic Counselors 39th Virtual Annual Conference . Virtual [in-person conference canceled], November 17 - 22, 2020

Specialties: Genetics, Pediatrics, Women's Health/OB/GYN

Frequency of 5 Cancer Types in Families with a Pathogenic or Likely Pathogenic Variant in the ATM Gene

Authors: Tully DM, Conlan KM, Weltmer EC, Go NA, Rhodes CH, Fesko YA
Event: NSGC 2020: National Society of Genetic Counselors 39th Virtual Annual Conference . Virtual [in-person conference canceled], November 17 - 22, 2020

Specialties: Genetics, Oncology

Breast cancer in PMS2-positive patients

Authors: Boehler K, Weltmer EC, Fesko YA, Lacbawan F
Event: NSGC 2020: National Society of Genetic Counselors 39th Virtual Annual Conference . Virtual [in-person conference canceled], November 17 - 22, 2020

Specialties: Genetics, Oncology

Enhancement of spinal muscular atrophy carrier screening with unique variants: to include or not to include?

Authors: Cheng LL, Alagia DP, Batish SD, Blazejewski LM, Castonguay CP, Guy C, Hennigan A, Mullen TE, Owen R, Robichaud N, Lacbawan FL
Event: NSGC 2020: National Society of Genetic Counselors 39th Virtual Annual Conference . Virtual [in-person conference canceled], November 17 - 22, 2020

Specialties: Genetics, Neurology