Peripheral Neuropathy III: Genetic Testing and Next Generation Sequencing
Sunday April 22, 2018 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. 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 C31: Peripheral Neuropathy I: Anatomical Basis and Acquired Demyelinating Neuropathies and C41: 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, FAAN
5:00 PM - 5:30 PM
Case Presentations / Questions and Answers
Shawna Feely , Stephan Zuchner MD, FAAN
Dr. Feely has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Invitae.
Stephan Zuchner, MD, FAAN
Dr. Zuchner has received licensing fee payments from Athena Diagnostic.
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