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PROGRAM
DIAGNOSTIC APPROACH TO INTELLECTUAL DISABILITY
10:45: Introduction of the coordinator: Prof. M.
Zollino
11:00 Flowchart of the diagnostic procedures: from
clinical evaluation of patients to the genetic
tests (a-CGH, gene sequencing, NGS). Which the limit
for targeted genetic tests?
A. Rauch, Zürich, Switzerland
11:45 Stratification of patients into different
clinical categories: a personal experience
M. Zollino, Roma
12:30 Proposal of evaluation criteria of VUS (CNVs
and gene variants)
M. Genuardi, Firenze
13:15 Quick Lunch
14:00-16:30 ROUND TABLE
A. Rauch (Zürich), M.Tartaglia (Roma), M. Zollino
(Roma) and all partecipants
Enrollment of patients into NGS
An informal clinical network encouraged
16:30 Final considerations (M. Zollino)
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