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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Prenatal Cell-Free DNA Screening for 22q11.2 Deletion Syndrome: Positive Predictive Value Estimates from a Large US Clinical Laboratory

Quest Diagnostics Authors: Alagia, DP, Anderson, B, Guy, C, Lacbawan, F, Owen, R
Authors: Kahl K, Guy C, Karamata N, Owen R, Anderson B, Zhang K, Lacbawan FL, Alagia DP
Event: ACMG 2020: Annual Clinical Genetics Meeting. San Antonio, TX, March 17-21, 2020

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

Maternal Mosaic and Variant Turner Syndrome Detected by NIPT in a Reproductive Population

Quest Diagnostics Authors: Anderson, B, Blazejewski, L, Boyar, F, Guy, C, Zhang, K
Authors: Blazejewski LM, Guy C, Owen R, Anderson B, Zhang K, Boyar FZ, Alagia DP
Event: ACMG 2020: Annual Clinical Genetics Meeting. San Antonio, TX, March 17-21, 2020

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

Exome testing improves diagnosis in case of individual presenting with overgrowth and global developmental

Quest Diagnostics Authors: Karbassi, I, Owen, R, Raval, FM
Authors: Hayes H, Karbassi I, Powis Z, Raval F, Owen R
Event: ACMG 2020: Annual Clinical Genetics Meeting. San Antonio, TX, March 17-21, 2020

Specialties: Genetics, Neurology

Predictive genetic testing of children for adult-onset cancer risk: Testing indications and value of the laboratory genetic counselor

Quest Diagnostics Authors: Fesko, Y
Authors: Elaine C. Weltmer EC, Boehler K, Howell V, Tully DM, Wayne M, Brawer M, Fesko YA
Event: NSGC 2019: National Society of Genetic Counselors 37th Annual Conference. Salt Lake City, UT, November 5-8, 2019

Specialties: Genetics, Oncology

Outreach Opportunities for the Genetic Counseling Community: Who is ordering predictive testing on minors for adult-onset cancer risk?

Quest Diagnostics Authors: Fesko, Y
Authors: Boehler K, Weltmer EC, Howell V, Tully DM, Wayne M, Brawer M, Fesko YA
Event: NSGC 2019: National Society of Genetic Counselors 37th Annual Conference. Salt Lake City, UT, November 5-8, 2019

Specialties: Genetics, Oncology

Potential diagnostic ability of a rapid, targeted panel for critically ill newborns

Quest Diagnostics Authors: Krasner, M, Mullen, T
Authors: DL Stachiw-Hietpas, MR Krasner, SE Witherington and TE Mullen
Event: NSGC 2019: National Society of Genetic Counselors 37th Annual Conference. Salt Lake City, UT, November 5-8, 2019

Specialties: Genetics, Neurology

Theoretical Diagnostic Yield of a Rapid, Targeted Genetic Panel for Critically Ill Newborns

Quest Diagnostics Authors: Hahn, S, Lacbawan, F
Authors: DL Stachiw-Hietpas, MR Krasner, SE Witherington, TE Mullen, SE Hahn, and FL Lacbawan
Event: NSGC 2019: National Society of Genetic Counselors 37th Annual Conference. Salt Lake City, UT, November 5-8, 2019

Specialties: Genetics, Neurology

Theoretical diagnostic yield of a rapid, targeted genetic panel for critically ill newborns

Quest Diagnostics Authors: Hahn, S, Krasner, M, Lacbawan, F, Mullen, T, Stachiw-Hietpas, DL, Witherington, SE
Authors: Stachiw-Hietpas DL, Krasner MR, Witherington SE, Mullen TE, Hahn SE, and Lacbawan FL
Event: 2019 National Association of Neonatal Nurses, Southern California Chapter. San Diego, CA, November 4, 2019

Specialties: Genetics, Neurology

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Breast cancer risk among women with Lynch syndrome

Quest Diagnostics Authors: Racke, FK, Wong, E
Authors: Wong ECC, Noh L, Worfolk L, Wu W, Sahud M, Racke F, Dlott JS
Event: CGA 2019. Salt Lake City, UT, November 3-5, 2019

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

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