Conference Presentations by Medical Specialty - Neurology

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

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Frequencies and patterns of deleterious variants in the largest cohort of patients referred for diagnostic MECP2 genotyping

Quest Diagnostics Authors: Buller-Burckle, A, Daniel, S, Lacbawan, F, Owen, R
Authors: Wan M, Buller-Burckle A, Quan F, Owen R, Ilagan BJ, Ghaffari G, Zhang Q, Oddoux C, Cai G, Vo T,Ito M, Wang G, Tsao D, Nery CR, Rion JR, Chen R, Zhang K, Daniel S, Lacbawan FL
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Neurology

The Dual Laboratory Faces of Porphyria Cutanea Tarda

Quest Diagnostics Authors: Guerrero, RB, Lacbawan, F, Tanpaiboon, P
Authors: Salazar D, Sharma R, Guerrero RB, Kucera C, Epstein BK, Taylor JC, Lobo R, Lacbawan FL, Tanpaiboon P
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Neurology

Diagnosis of porphyrias by fractionated urine or plasma porphyrins: Experience at Biochemical Genetics Laboratory, Quest Diagnostics

Quest Diagnostics Authors: Lacbawan, F
Authors: Sharma R, Tanpaiboon P, Kucera C, Epstein BK, Taylor JC, Lobo R, Lacbawan FL, Salazar D
Event: ASHG 2020: American Society of Human Genetics Annual Meeting. Virtual [in-person conference canceled], October 27 - 31, 2020

Specialties: Genetics, Neurology

Myelin oligodendrocyte glycoprotein (MOG) antibodies: results from first 1045 specimens tested at a clinical reference laboratory

Quest Diagnostics Authors: Batish, SD, Datta, V, Katzman, E, Radcliff , J, Sansoucy, BG
Authors: Batish SD, Datta V, Radcliff J, Katzman EM, Sansoucy B
Event: AAN 2020: American Academy of Neurology Annual meeting 2020 . Cancelled but abstracts are available online, April 25 - May 1, 2020

Specialties: Neurology

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Distribution of mutations associated with congenital myasthenic syndromes (CMS): results from the first 54 specimens tested at a clinical reference laboratory

Quest Diagnostics Authors: Batish, SD, Datta, V, Lebron, F, Meservey, MA, Radcliff , J, Wang, Z
Authors: Batish SD, Wang Z, Lebron F, Meservey MA, Radcliff J, Datta V
Event: AAN 2020: American Academy of Neurology Annual meeting 2020 . Cancelled but abstracts are available online, April 25 - May 1, 2020

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by Athena Diagnostics, a subsidiary of Quest Diagnostics.

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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 III, 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

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Frequency of Incidental Maternal Mosaic and Variant Turner Syndrome Detected by NIPT in a Pregnant Cohort

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

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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