If a clinician wishes to confirm the diagnosis of FD, what is the systematic roadmap to ensure the appropriate biomarkers and genetic information have been obtained with enzymatic activity and/or genetic (sequencing) tests?

If a clinician wishes to confirm the diagnosis of FD, what is the systematic roadmap to ensure the appropriate biomarkers and genetic information have been obtained with enzymatic activity and/or genetic (sequencing) tests?

If a clinician wishes to confirm the diagnosis of FD, what is the systematic roadmap to ensure the appropriate biomarkers and genetic information have been obtained with enzymatic activity and/or genetic (sequencing) tests?


Created by

CMEducation Resources IQ&A Fabry Disease Diagnostic Intelligence Zone

Presenter

Robert Hopkin

Robert Hopkin

Associate Professor of Clinical Pediatrics
Cincinnati Children's Hospital Medical Center
Co-Director, 22Q-VCFS Center
University of Cincinnati College of Medicine
Cincinnati, OH