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Clinical Trial Summary

The coming out of Next Generation Sequencing (NGS) technologies, with documented advantages and reduced costs respect to Sanger sequencing, has provided new appealing approaches to diagnostic testing. Despite this, its use for routine diagnostic purposes requires certification in terms of reliability, as well as a cost-effectiveness evaluation.

To test the feasibility of using the Ion Torrent Personal Genome Machine (PGM) in clinical diagnosis, we assessed its performance to detect point mutations and big rearrangements previously identified with standard techniques. The diagnostic accuracy and the cost-effectiveness will be evaluated by Health Technology Assessment (HTA) analyses.


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT03557567
Study type Observational
Source Istituto Ortopedico Rizzoli
Contact
Status Completed
Phase
Start date September 29, 2014
Completion date September 2017

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