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Athena Diagnostics to Present Original Research on Neurogenetics at American Academy of Neurology's 2014 Annual Meeting

Company scientists advance understanding of role of genetics in seizure disorders, Charcot-Marie-Tooth disease and other conditions at top neurology industry conference

MADISON, N.J., April 28, 2014 /PRNewswire/ -- Quest Diagnostics (NYSE: DGX), the world's leading provider of diagnostic information services, today announced that several scientists from its Athena Diagnostics specialty neurology business will present research during the the American Academy of Neurology's 66th Annual Meeting, to be held April 26 to May 3, 2014, at the Pennsylvania Convention Center in Philadelphia. The event will feature a platform presentation on predictive computer modeling of SCN1A-related seizure disorders, to be given by Dr. Joseph J. Higgins, medical director, neurology, Athena Diagnostics.

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"Neurogenetics is a rapidly evolving field with great potential to aid the diagnosis and treatment of neurological disorders," said Joseph J. Higgins, MD, medical director, neurology, Athena Diagnostics. "In many cases, these disorders are amenable to treatment, but their diagnosis by current methods is elusive. Quest is committed to neurology research and development because we recognize that molecular testing has the potential to improve treatment and patient management. We look forward to contributing novel findings mined from our vast experience in neurology and neurogenetics during the AAN conference."

The presentations will include:

  • "Structural and Functional Implications of Modeling Non Synonymous Mutations in Patients with SCN1A-related Seizure Disorders." This work explores a protein computational modeling approach to predicting structural changes in a specific sodium channel in the brain, based on mutations in that channel's corresponding gene, SCN1A. It will be presented in a platform session by Dr. Higgins, medical director, neurology, Athena Diagnostics on Wednesday, April 30 at 3:30 pm and a poster session on Tuesday, April 29 from 1:00 pm to 5:00 pm by Dr. Izabela Karbasi, manager of variant science.
  • "Zygosity Detection by Next Generation Sequencing in a Clinical Laboratory." This work compared the analytical accuracy of variant and zygosity detection of two techniques: next-generation sequencing (NGS) technology and Sanger sequencing.  It will be presented by Quest's Zhenyuan Wang, PhD, laboratory director; and Christina DiVincenzo, scientist, on Monday, April 28 from 3:00 pm to 6:30 pm.
  • "The Allelic Spectrum of Charcot-Marie-Tooth Disease in Over 17,000 Individuals with Neuropathy." Researchers assessed the frequency, positive rate, and type of mutations in 14 genes that are associated with Charcot-Marie-Tooth disease, a complex molecular disorder. This work will be co-presented by two Quest representatives: Christina DiVincenzo, scientist; and Carol Hoffman, PhD, genetic counselor, on Tuesday, April 29 from 7:30 am to 9:00 am.
  • "Frequencies of Seven Muscle Enzyme Deficiencies in Samples Tested for Myoglobinuria in a Clinical Laboratory." Researchers focused on determining the frequency distribution of seven enzyme deficiencies in muscle biopsy samples—submitted to a lab for evaluation of myoglobinuria, a muscle disease—with the goal of guiding the use of enzyme tests to diagnose the disease. The presentation, by Malgorzata Jaremko, PhD, senior director of genetics at Quest, will be on Tuesday, April 29 from 3:00 pm to 6:30 pm.
  • "Analyses of Neural Autoantibodies by a Clinical Laboratory for the Evaluation of Paraneoplastic and Non-paraneoplastic Neuronal Disorders."  This research determined the frequency of certain neural autoantibodies that are associated with non-specific paraneoplastic disorders, cerebellar degeneration, and autoimmune encephalitis, to aid in earlier identification. It will be co-presented by Dr. Higgins, medical director, neurology, Athena Diagnostics and Dr. Brachet, scientist, on Thursday, May 1 from 7:30 am to 9:00 am.

Athena Diagnostics will exhibit at booth #813 for the duration of the conference.

About Athena Diagnostics
Athena Diagnostics, a business of Quest Diagnostics, is a leader in diagnostic testing for neurological diseases and offers innovative tests for Alzheimer's disease, muscular dystrophy and other neuromuscular and developmental disorders. Athena is dedicated to providing neurologists and other physicians and specialists with insights that can improve patient health. For more information, visit

About Quest Diagnostics
Quest Diagnostics is the world's leading provider of diagnostic information services that patients and doctors need to make better healthcare decisions. The company offers the broadest access to diagnostic information services through its network of laboratories and patient service centers, and provides interpretive consultation through its extensive medical and scientific staff. Quest Diagnostics is a pioneer in developing innovative diagnostic tests and advanced healthcare information technology solutions that help improve patient care. Additional company information is available at Follow us at and

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Quest Diagnostics Contacts:
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