Peripheral Neuropathy III: Genetic Testing and Next Generation Sequencing
Thursday April 27, 2017 3:30 pm to 5:30 pm
Neuromuscular and Clinical Neurophysiology (EMG)
Michael Shy MD
Next generation sequencing testing is making a genetic diagnosis increasingly available and affordable for patients with inherited neuropathies. However, it is increasingly confusing and complex in deciding what genetic testing to perform and how to interpret the results. The Peripheral Nerve Society (PNS) and Neuromuscular Section of the AAN will present this two-hour course to address these issues. Expert faculty with extensive experience in ordering and interpreting genetic testing for CMT will review strategies for ordering and interpreting test results, as well as discuss the current state and future of next generation testing for patients with inherited neuropathies and related disorders.
This program complements C193: Peripheral Neuropathy I: Anatomical Basis and Acquired Demyelinating Neuropathies and C204: Peripheral Neuropathy II: Diabetic and Inherited Neuropathies, but covers independent topics.
Participants should be able to determine when to consider ordering genetic testing for patients with neuropathy; determine when testing is positive or negative and have an approach of what to do when results are inconclusive; and understand the different forms of next generation sequencing and the strengths and weaknesses of these forms.
Medical Knowledge, Patient Care
Program Speakers - Tentative
3:30 PM - 4:15 PM
Interpreting Genetic Testing Results in Patients with Inherited Neuropathies
4:15 PM - 5:00 PM
Advances and Limits of Next Generation Sequencing Beyond Clinical Testing
Stephan Zuchner MD
5:00 PM - 5:30 PM
Questions and Answers/Case Presentations
Shawna Feely , Stephan Zuchner MD
Dr. Feely has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Invitae.
Stephan Zuchner, MD
Dr. Zuchner has received licensing fee payments from Athena Diagnostic.