Trials / Completed
CompletedNCT03557567
NGS Strategy Effectiveness in Molecular Diagnosis
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 400 (actual)
- Sponsor
- Istituto Ortopedico Rizzoli · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| DIAGNOSTIC_TEST | NGS molecular screening |
Timeline
- Start date
- 2014-09-29
- Primary completion
- 2017-04-01
- Completion
- 2017-09-01
- First posted
- 2018-06-15
- Last updated
- 2018-06-18
Source: ClinicalTrials.gov record NCT03557567. Inclusion in this directory is not an endorsement.