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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Development and validation of a 2-step PCR library preparation method for the detection of GBA mutations by next generation sequencing

Quest Diagnostics Authors: Buller-Burckle, A, Gerasimova, A, Owen, R, Rosenthal, SH, Smolgovsky, A
Authors: Renius Owen, Sun Hee Rosenthal, Anna Gerasimova, Alla Smolgovsky, Arlene Buller-Burckle, and Felicitas Lacbawan
Event: ASHG 2019: The American Society of Human Genetics Annual Meeting. Houston, TX, October 15-19, 2019

Specialties: Clinical and Lab healthcare professionals, Genetics, Laboratory, Oncology

Validation of scoring metrics to guide the classification of constitutional copy number variants

Quest Diagnostics Authors: Kantarci, S
Authors: Riggs ER, Andersen E, Cherry AM, Kantarci S, Kearney H, Ankita Patel, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, and Lese Martin C
Event: ASHG 2019: The American Society of Human Genetics Annual Meeting. Houston, TX, October 15-19, 2019

Specialties: Genetics

Evaluation of a 42-gene Next Generation Sequencing Panel for Detection of Acute Myeloid Leukemia Mutations for Clinical Use

Quest Diagnostics Authors: Gerasimova, A, Lacbawan, F, Racke, FK, Rosenthal, SH
Authors: Rosenthal SH, Gerasimova A, Ma C, Sugganth D, Racke F, Lacbawan F
Event: ASCP 2019; American Society for Clinical Pathology. Phoenix, AZ, September 11-13, 2019

Specialties: Genetics, Oncology

A de novo deletion of 3p21.31 disrupting SETD2

Quest Diagnostics Authors: Hodko, D
Authors: Hodko D, Mahon LW, Asaikar SM, and Kantarci S
Event: ClinGen 2019: Curating the Clinical Genome Conference. Washington, DC, May 29-31, 2019

Specialties: Genetics, Neurology

Clinical validation of long-range PCR assay for MLL (KMT2A) partial tandem duplications for acute myeloid leukemia

Quest Diagnostics Authors: Lacbawan, F, Li, H, Owen, R, Qu, K, Racke, FK, Rosenthal, SH
Authors: Rosenthal SH, Li H-R, Qu K, Liu Y, Owen R, Racke FK, Lacbawan FL
Event: ASCO 2019: Annual Meeting of the American Society of Clinical Oncology. Chicago, IL, May 31-June 4, 2019

Specialties: Genetics, Oncology

Analytical validation of a 47-gene NGS panel for molecular profiling of myeloid neoplasms

Quest Diagnostics Authors: Catanese, J, Chen, R, Chong, HK, Elzinga, C, Gerasimova, A, Grupe, A, Lacbawan, F, Li, H, Nguyen, Q, Owen, R, Qu, K, Racke, FK, Rosenthal, SH, Smolgovsky, A, Wolfson, D
Authors: Rosenthal SH, Gerasimova A, Li H-R, Qu K, Acab AJ, Chong HK, Zhang X, Nguyen Q, Smolgovsky A, Wolfson D, Chen R, Grupe A, Elzinga C, Owen R, Catanese J, Racke F, and Lacbawan F
Event: ASCO 2019: Annual Meeting of the American Society of Clinical Oncology. Chicago, IL, May 31-June 4, 2019

Specialties: Genetics, Oncology

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Early Results from the BRCA Founder Outreach (BFOR) Study: Population Genetic Screening Using a Medical Model

Quest Diagnostics Authors: Fesko, Y
Authors: Morgan K, Gabriel C, Symecko H, Lester J, Levin J, Kamara D, Spielman K, Jenkins C, Hamilton JG, Y Fesko YA, Heitler J, Block J, Pace L, Robson ME, Nathanson K, Tung NM, Domchek S, Karlan B, Garber JE, Offit K
Event: ASCO 2019: Annual Meeting of the American Society of Clinical Oncology. Chicago, IL, May 31-June 4, 2019

Specialties: Genetics, Oncology

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Newborn Screen for MPS1 (Hurler Syndrome) – the Washington, DC experience

Quest Diagnostics Authors: Tanpaiboon, P
Authors: Grant C, Lal TR, Crosby K, Hicks R, Viall S, Tanpaiboon P
Event: APHL Newborn Screening and Genetic Testing Symposium 2019. Chicago, IL, April 7-10, 2019

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

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