Webinars
Facioscapulohumeral Muscular Dystrophy (FSHD) Clinical Overview and Testing Methodologies
Presentation
Video
Category: Webinar
Description: Whitney Dodge, LCGC, Genetic Counselor explains the clinical signs and symptoms of FSHD and discusses the differences between Southern blot and molecular combing testing methodologies. After the presentation Whitney will be joined by expert Dr. Fatih Boyer, Science Director at Quest Diagnostics in San Juan Capistrano, to answer your most challenging questions.
At the end of this webinar, participants will be able to:
• Describe the clinical and molecular background of FSHD
• Explain the differences between Southern blot and molecular combing when diagnosing FSHD
• Cite advantages and limitations of each methodology
Related Content
Presentation:
Standardized DNA Variant Scoring System for Pathogenicity Assessments: Application in a Diagnostic Lab Setting
Hoffman, Carol, PhD, MS, LCGC
Karbassi, Izabela, PhD, FACMG
Presentation:
Diagnosis of Genetic Muscle Disease in 2015: “A Panel More Likely Will Yield a Diagnosis”
Wicklund, Matthew P., MD
Expert Insight:
Neurome - Exome Sequencing for Neurological Disorders
Higgins, Joseph J., MD., FAAN
