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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Assessment of microsatellite instability (MSI) status in colorectal cancer tissue using a next-generation sequencing-based tumor profiling assay

Quest Diagnostics Authors: Arnal, S, Daniel, S, Lacbawan, F, Qu, K, Sheikholeslami, MR, Sunkara, S, Zhang, ZJ
Authors: Kevin Qu, Suzzette Arnal, Charles Ma, and Sugganth Daniel
Event: AACR 2019: American Association for Cancer Research Annual Meeting 2019. Atlanta, GA, March 29 - April 3, 2019

Specialties: Genetics, Oncology

Lynch Syndrome Families with Breast Cancer: Majority of Observed Mutations Are in MSH6 and PMS2

Quest Diagnostics Authors: Fesko, Y, Lacbawan, F, Oddoux,, C, Rhodes , CH, Weltmer, E, Wilson, K
Authors: Weltmer Elaine C,, Wilson Kate L., Oddoux Carole, Rhodes Charlie H., Lacbawan Felicitas L., Fesko Yuri A.
Event: AACR 2019: American Association for Cancer Research Annual Meeting 2019. Atlanta, GA, March 29 - April 3, 2019

Specialties: Genetics, Oncology

Preliminary Insight into CADASIL Testing: Using Aggregate Patient Data from a Clinical Diagnostics Laboratory to Improve NOTCH3 Variant Interpretation

Quest Diagnostics Authors: Batish, SD, Karbassi, I, Lacbawan, F, Lapierre, JL, Maston, G, McCarthy, M, Mullen, T, Raval, FM
Authors: Raval FM, Lapierre JL, Maston G, Patel U, McCarthy M, Karbassi I, Batish SD, Mullen T, and Lacbawan F
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Neurology

Confirmatory methods used for germline NGS testing teach us about the strengths and weaknesses of molecular technologies

Quest Diagnostics Authors: Batish, SD, DiVincenzo, C, Evans, M, Lacbawan, F, Mullen, T, Rajapakse, J, Wang, Z
Authors: Thomas Mullen, Jalini Rajapakse, Matthew Evans, Christina DiVincenzo, Sat Dev Batish, Zhenyuan Wang, and Felicitas Lacbawan
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

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

Maternal Chimerism as a Cause of Confounded Gender Reporting and Gender Discordance in cfDNA Screening

Quest Diagnostics Authors: Anderson, B, Blazejewski, L, Chen, N, Koch, S, Masiello, M, Owen, R, Schonberg, S
Authors: Blazejewski LM, Koch S, Masiello M, Chen N, Schonberg SA, Owen R, Zhang K, Anderson B, Lacbawan FL
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

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

Looming False Negatives: Reconsidering the clinical significance of synonymous variants

Quest Diagnostics Authors: DiVincenzo, C, Hiller, E, Karbassi, I, Lacbawan, F, Maston, G, Mullen, T
Authors: Maston G, Hiller E, Karbassi I, DiVincenzo C, Mullen T, Lacbawan F
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics

Anticipated Positive Rates for Genetic Testing in the General Population: a “Virtual Panel” Approach

Quest Diagnostics Authors: Hellman, A, Mullen, T, Nakles-Taylor, R, Nery, C
Authors: Hiller E, Maston G, Karbassi I, Andrew Hellman A, Nery C, Nakles-Taylor R, Mullen T
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Oncology

Double Heterozygotes and Carriers of Biallelic Pathogenic Variants Identified During Genetic Testing for Hereditary Cancer Risk at a Diagnostic Laboratory

Quest Diagnostics Authors: Buller-Burckle, A, Chen, R, Hiller, E, Karbassi, I, Lacbawan, F, Nakles-Taylor, R, Nery, C, Rion, J
Authors: Nakles-Taylor R, Chen R, Rion J, Hiller E, Nery C, Karbassi I, Buller-Burckle A, Lacbawan F
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Oncology

Standards for the Classification and Reporting of Constitutional Copy Number Variants: A ClinGen/ACMG Joint Consensus Recommendation

Quest Diagnostics Authors: , V, Kantarci, S, Nakles-Taylor, R
Authors: Rooney Riggs E, Andersen E, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, and Lese Martin C
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Neurology

An Unexpected Pathogenic SDHC Variant Detected by Germline Cancer Panel Testing

Quest Diagnostics Authors: Fesko, Y, Hiller, E, Wilson, K
Authors: Haskins, CG; Wilson, K;Hiller, EH, Fesko, Y; Zhang, Q; Hess, CA
Event: NSGC 2018: National Society of Genetic Counselors 37th Annual Conference . Atlanta, GA, November 14-17, 2018

Specialties: Genetics, Oncology