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 

HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory

Quest Diagnostics Authors: Batish, SD, Radcliff , J
Authors: Batish SD, Meservey M, Haji-Sheikhi F, Nedzweckas EM, Wang Z, Datta V, Mullen TE, Radcliff J
Event: AAN 2021: American Academy of Neurology Annual meeting 2021. Virtual [in-person conference canceled], April 17 - 22, 2021

Specialties: Genetics, Neurology

HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory

Quest Diagnostics Authors: Batish, SD, Radcliff , J
Authors: Batish SD, Meservey M, Haji-Sheikhi F, Nedzweckas EM, Wang Z, Datta V, Mullen TE, Radcliff J
Event: AAN 2021: American Academy of Neurology Annual meeting 2021. Virtual [in-person conference canceled], April 17 - 22, 2021

Specialties: Neurology

Read the Key Summary (Download PDF)

Diagnostic Yield and Clinical Utility of Genetic Testing in Children with Seizure Onset After 2 Years of Age: An Update

Authors: Liaquat K, Gall K, Izzo E, Singh A, Alakurtti K, Seppala EH, Koskinen L, Koskenvuo J, Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

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

Next-Generation Sequencing Panels for Hereditary Hearing Loss Testing With Approaches for Difficult-to-Sequence Regions

Authors: Gall K, Tuupanen S, Sarantaus L, Gandia M, Duzkale H, Saarinen I, Sistonen J, Koskenvuo J, Alastalo T-P
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Novel BCL11A variant Arg3Cys in a patient with intellectual disability and persistence of fetal Hb

Authors: Muskett J, Nimrichter S, Zori R, Wang Z
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

Authors: Powis Z, Hayes H, Hamm JA, Putnam AM, Basaran R
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics, Neurology

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Quest Diagnostics Authors: Lacbawan, F, Rowland, C, Tanpaiboon, P
Authors: Huang Y, Sharma R, Feigenbaum A, Lee C, Sahai I, Sanchez R, Neira J, Brooks SS, Jackson KE, Wong D, Cederbaum S, Lacbawan FL, Rowland CM, Tanpaiboon P, Salazar D
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

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

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