Conference Presentations by Medical Specialty - Neurology

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

Email to request a copy 

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project

Quest Diagnostics Authors: Muralidharan, K, Prior, TW
Authors: Prior TW, Bayrak-Toydemir P, Mao R, Metcalf JD, Muralidharan K, Qureshi S, Requesens D, Shen J, Pratt V, Lynnes TC, Otsubo A, Vetrini F, Kalman L
Event: AMP2020: 2020 Association for Molecular Pathology Annual Meeting & Expo. Virtual [in-person conference canceled], November 19 - 21, 2020

Specialties: Genetics, Neurology

Enhancement of spinal muscular atrophy carrier screening with unique variants: to include or not to include?

Authors: Cheng LL, Alagia DP, Batish SD, Blazejewski LM, Castonguay CP, Guy C, Hennigan A, Mullen TE, Owen R, Robichaud N, Lacbawan FL
Event: NSGC 2020: National Society of Genetic Counselors 39th Virtual Annual Conference . Virtual [in-person conference canceled], November 17 - 22, 2020

Specialties: Genetics, Neurology

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project

Authors: Prior TW, Bayrak-Toydemir P, Mao R, Metcalf JD, Muralidharan K, Qureshi S, Requesens D, Shen J, Pratt V, Lynnes TC, Otsubo A, Vetrini F, Kalman L
Event: 2020 Association for Molecular Pathology (AMP2020) Annual Meeting & Expo. Virtual [in-person conference canceled], November 16 - 20, 2020

Specialties: Genetics, Neurology

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

Read the Key Summary (Download PDF)

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.

Read the Key Summary (Download PDF)

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

Read the Key Summary (Download PDF)

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

Read the Key Summary (Download PDF)