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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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: CAGC ACCG 2021: Canadian Association of Genetic Councellors Annual Education Conference. Virtual, September 29-Oct 2, 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.

Antibody-free Quantification of Serum Chromogranin A by Targeted Mass Spectrometry

Quest Diagnostics Authors: Clarke, NJ, McPhaul, MJ, Taylor, SW
Authors: Weber DM, Yang JY, Goldman SC, Clarke NJ, Taylor SW, McPhaul MJ
Event: AACC 2021: Annual Scientific Meeting and Clinical Lab Expo of the American Association for Clinical Chemistry. Atlanta, GA, September 26 - 30, 2021

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Neurology

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: NSGC 2021: National Society of Genetic Counselors 40h Virtual Annual Conference. Virtual, September 22-26, 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: Sarantaus L, Gall K, Tuupanen S, Gandia M, Duzkale H, Saarinen I, Sistonen J, Koskenvuo JW, Alastalo T-P
Event: ESHG 2021: European Human Genetics Virtual Conference. Virtual, August 28-31, 2021

Specialties: Genetics, Neurology

Cerebrospinal Fluid Aβ42, Total Tau, and Phosphorylated Tau in the Evaluation of Alzheimer’s Dementia: Experience From a Commercial Reference Laboratory

Authors: Batish SD, Haji-Sheikhi F, Kare AR, Datta V, Meservey M, Radcliff J
Event: AAIC 2021: Annual Alzheimer's Association International Conference. Amsterdam, Netherlands, July 26-31, 2021

Specialties: Neurology

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Phenotypic and heteroplasmy level variability in m.3243 mitochondrial disease

Authors: Sanchez Alcudia R, Miko Valori M, Kytölä V, Koskinen L, Aledo-Serrano A, Salmenperä P, Gentile M, Tallila J, Koskenvuo J, Isokallio M
Event: SENEP 2021: Sociedad Espanola De Neurologia Pediatrica. Virtual [in-person conference canceled], May 10-15, 2021

Specialties: Genetics, Neurology

Customization of the ACMG/AMP framework for Rett and Angelman-like disorders presents unique challenges

Authors: McKnight D, Bean L, Karbassi I, Beattie k, Bienvenu T, Bonin H, Cheng H, Chrisodoulou J, Fang P, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Murphy K, Neul J, Percy A, Ramsden S, Zoghbi H, Das S
Event: CGC 2021: Curating the Clinical Genome. Virtual [in-person conference canceled], May 12-14, 2021

Specialties: Genetics, Neurology

Comparison of validated neurological outcome instruments to assess myasthenia gravis in outpatients receiving long-term therapeutic plasma exchange: a multicenter quality assessment project

Authors: Monis G, Fernando L, Wong E, Sanford K, Gokhale A, Winters JL, Raval JS, Ipe TS
Event: ASFA 2021: American Society for Apheresis. Virtual [in-person conference canceled], May 12-15, 2021

Specialties: Hematology/Hemostasis/Thrombosis, 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

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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.