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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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

Biotinidase biochemical and molecular analyses: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory

Authors: Sharma R, Salazar D, Buller-Burckle A, Beierle R, Lobo RM, Lacbawan FL, Tanpaiboon P
Event: SIMD (Society for Inherited Metabolic Disorders) 2019. Bellevue, WA, April 6-9, 2019

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

A new method for automated solid phase extraction of organic acids in urine followed by gas chromatography –time of flight mass spectrometry (GC/Q-TOF) analysis

Quest Diagnostics Authors: Clarke, NJ, Lacbawan, F, Tanpaiboon, P
Authors: Salazar D, Goldman S, Weber D, Ross J, Albi S, Patrimonio L, Albi A, Sharma R, Davoodi R, Guerrero RB, Boktor J, Lacbawan F, Tanpaiboon P, and Clarke N
Event: SIMD (Society for Inherited Metabolic Disorders) 2019. Bellevue, WA, April 6-9, 2019

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

Preliminary Insight into CADASIL Testing: Using Aggregate Patient Data from a Clinical Diagnostics Laboratory to Improve NOTCH3 Variant Interpretation

Quest Diagnostics Authors: Batish, SD, Karbassi, I, Lacbawan, F, Lapierre, JL, Maston, G, McCarthy, M, Mullen, T, Raval, FM
Authors: Raval FM, Lapierre JL, Maston G, Patel U, McCarthy M, Karbassi I, Batish SD, Mullen T, and Lacbawan F
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Neurology

Standards for the Classification and Reporting of Constitutional Copy Number Variants: A ClinGen/ACMG Joint Consensus Recommendation

Quest Diagnostics Authors: , V, Kantarci, S, Nakles-Taylor, R
Authors: Rooney Riggs E, Andersen E, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, and Lese Martin C
Event: ACMG 2019: Annual Clinical Genetics Meeting. Seattle, WA, April 2 - 6, 2019

Specialties: Genetics, Neurology

A case of AMPAR2 encephalitis with impaired cognition

Quest Diagnostics Authors: Naides, SJ
Authors: Saadatpour L, Sullivan AC, Naides, SJ, Parker AS
Event: 2019 South Texas Alzheimer's Conference. San Antonio, TX, February 25 - 26, 2019

Specialties: Infectious Disease, Neurology

Mild Canavan disease presenting with Ocular Migraines and atypical Brain MRI

Quest Diagnostics Authors: Lacbawan, F, Tanpaiboon, P
Authors: Tanpaiboon P, Sharma R, Salazar D, Bonilla-Guerrero R, Lacbawan FL, Asaikar SM
Event: ACMG 2015: Annual Clinical Genetics Meeting . Salt Lake City, Utah, March 25-27, 2015

Specialties: Genetics, Neurology

Evaluating Dosage Sensitivity of Genes Associated with Neurodevelopmental Disorders

Quest Diagnostics Authors: Kantarci, S
Authors: Riggs ER, Barry C-A,Ahn JW, Brandt T, Cano O, Cao Y, Goodenberger M, Kantarci S, Khan W, Li G, Ngo C, Risheg H, Runke C, Su M, Shen Y, Aradhya S, Thorland E, and Martin CL
Event: ASHG 2018: The American Society of Human Genetics Annual Meeting. San Diego, October 16-20, 2018

Specialties: Genetics, Neurology

Diagnosis of Fatty Acid Oxidation Disorders: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory.

Quest Diagnostics Authors: Lacbawan, F, Tanpaiboon, P
Authors: Sharma R, Tanpaiboon P, Salazar D, Bonilla-Guerrero R, Lacbawan FL, Asaikar SM
Event: INFORM Symposium 2018: International Network for Fatty Acid Oxidation Research and Management. Athens, Greece, , September 2-3, 2018

Specialties: Genetics, Neurology

Laboratory Methods in Autoimmune Neurology

Quest Diagnostics Authors: Naides, SJ
Event: AMLI 31st Annual Meeting, 2018: The Association of Medical Laboratory Immunologists. Scottsdale, AZ, August 17-20, 2018

Specialties: Neurology, Rheumatology/Immunology/Allergy