20170502 CCMG-CCGM - Breakout Sessions |
Breakout Sessions
Clinical Biochemical Breakout
Oana Caluseriu, Department of Medical Genetics, University of Alberta, Edmonton AB
Murray Potter, Laboratory Medicine, McMaster Children’s Hospital, Hamilton ON
Oana Caluseriu, Department of Medical Genetics, University of Alberta, Edmonton AB
Murray Potter, Laboratory Medicine, McMaster Children’s Hospital, Hamilton ON
At the end of the session, the participants will be able to:
1. Recognize rare clinical disorders of difficult diagnosis
2. Evaluate the utility of new diagnostic techniques in the assessment of patients with rare disorders including whole exome and whole genome sequencing.
3. Review the value of a complete phenotypic assessment and integration of genotype and phenotype data.
4. Review strategies for follow-up of abnormal biochemical investigations.
1. Recognize rare clinical disorders of difficult diagnosis
2. Evaluate the utility of new diagnostic techniques in the assessment of patients with rare disorders including whole exome and whole genome sequencing.
3. Review the value of a complete phenotypic assessment and integration of genotype and phenotype data.
4. Review strategies for follow-up of abnormal biochemical investigations.
Molecular/Cyto Breakout
Hanxin Lin, Molecular Genetics Laboratory, London Health Sciences Center, London ON
Dennis Bulman, CHEO Research Institute & Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa ON
At the end of the session, the participants will be able to:
1. Describe potential issues with current diagnostic technologies.
2. Distinguish unique biological differences which may affect testing results or interpretations.
3. Describe different approaches for troubleshooting unexplained test results.
4. Describe approaches to combine molecular and cytogenetic interpretations to genetic disease.
At the end of the session, the participants will be able to:
1. Describe potential issues with current diagnostic technologies.
2. Distinguish unique biological differences which may affect testing results or interpretations.
3. Describe different approaches for troubleshooting unexplained test results.
4. Describe approaches to combine molecular and cytogenetic interpretations to genetic disease.