Clinical Education Center

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

Gene-specific Variant Interpretation Guidelines in GCK, HNF1A, and HNF4A: Update from the ClinGen Monogenic Diabetes Expert Panel

Authors: Zhang H, Maloney KA, Skopkova M, Saint-Martin C, Saliganan S, Cano OD, Cosentino R, Letourneau L, Murphy R, Kettunen J, Parikh H, Gasperikova D, Urano F, Richard G, Molnes J , Maston G, Bellanné-Chantelot C, Colclough K, Pollin TI
Event: ACMG 2015: Annual Clinical Genetics Meeting . Salt Lake City, Utah, March 25-27, 2015

Specialties: Neurology

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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Plasma β-Amyloid 1-42/1-40 Ratio Provides Insight into the Presence of Alzheimer’s Disease

Quest Diagnostics Authors: Clarke, NJ, Ginns, EI, Lagier, R, Morneau, KR, Neusch, T, Qeleshi, A, Rowland, C
Authors: Morneau KR, Sansoucy BG, Lagier RJ, Rowland CM, Neusch T, Qeleshi A, Ginns EI, Clarke NJ
Event: AAIC 2019: Annual Alzheimer's Association International Conference. Los Angeles, CA, July 14-18, 2019

Specialties: Neurology

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A Comprehensive Analysis of Allele Frequencies from 476,930 Spinal Muscular Atrophy Test Results

Quest Diagnostics Authors: Alagia, DP, Evans, M, Karbassi, I, Lacbawan, F
Authors: Evans MC, Moore R, McCarthy M, Karbassi I, Alagia DP, Lacbawan F,
Event: ACOG 2019: The American College of Obstetricians and Gynecologists Annual Clinical and Scientific Meeting. Nashville, TN, May 3-6, 2019

Specialties: Neurology

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