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NGS Strategy Effectiveness in Molecular Diagnosis

NCT03557567 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 400

Last updated 2018-06-18

No results posted yet for this study

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

DIAGNOSTIC_TEST

NGS molecular screening

Sponsors & Collaborators

  • Catholic University of the Sacred Heart

    collaborator OTHER

  • Regione Emilia-Romagna

    collaborator OTHER

  • Istituto Ortopedico Rizzoli

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-09-29
Primary Completion
2017-04-30
Completion
2017-09-30

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Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03557567 on ClinicalTrials.gov