Workshop on Interpretation of diagnostic genetic results (biochemical, cytogenetics and molecular)
Friday 7th June 2013
ESHG Conference - Satellite meeting
Amphitheatre Havane
Goal of the meeting: Genetic laboratories will be more aware of how to use the outcome from EQA scheme, actions to be taken, the various nomenclatures, improvement in the accuracy of the content and interpretation of reports.
Purpose of the course:
To address
- learning points from the different EQA scheme providers in the different field (cytogenetics, biochemical genetics and molecular genetics),
- the reason why it is important to participate to EQA schemes, to motivate laboratories to step in the process some of the frequent nomenclature and interpretation errors identified when laboratories participate in EQA
Programme:
| 09.30 - 09.50 | Welcome and introduction - Els Dequeker | |
| 09.50 - 10.05 | Practical problems nomenclature - Marta Rodrigues de Alba | |
| 10.05 - 10.35 | Nomenclature ISCN - Nicole De Leeuw | |
| 10.35 - 11.00 | Nomenclature HGVS - Johan den Dunnen | |
| 11.00 - 11.15 | Coffee | |
| 11.15 - 11.45 | EuGT interpretation reporting survey - Emmanuelle Girodon | |
11.45 - 12.45 | Case reports EMQN schemes (2x) (10 min x 2) - David Barton/ Emmanuelle Girodon | |
| 12.45 - 13.30 | Lunch | |
| 13.30 - 15.00 | Cases studies in small group per discipline (interactive session) | |
| 15.00 - 15.15 | Coffee | |
| 15.15 - 16.45 | Feedback from case studies | |
| 16.45 - 17.00 | Final conclusions |