2015 Annual Meeting -Symposium: Pediatric and Perinatal Pathology: An Approach to the Diagnosis of Metabolic Diseases in the Perinate for the Pathologists |
Monday June 22, 0800-1030
Chantal Bernard, McGill University
Miriam Blumenkrantz, Montreal Children’s Hospital
Michael Geraghty, Childrens Hospital Eastern Ontario, University of Ottawa
Fabienne Parente, McGill University Health Center
Objectives:
At the end of this session, participants will be able to:
Define the metabolic autopsy in 2015 and recognize its indications.
Recognize selected clinical and pathological presentations of metabolic disorders.
Develop an interdisciplinary approach for diagnosis.
Discuss the optimal biochemistry testing for diagnosis.
Discuss guidelines for peri-mortem and post-mortem sampling (metabolic autopsy protocol).
Recognize how large scale DNA testing will change future metabolic
diagnosis.