NGS Strategy Effectiveness in Molecular Diagnosis

Istituto Ortopedico Rizzoli

Status: Completed

Conditions: Osteogenesis Imperfecta; Multiple Osteochondroma

Treatments: Diagnostic Test: NGS molecular screening

Study type: Observational

Funder types: Other

Identifiers

NCT03557567

PRUA1GR-2013-00000177

Details and patient eligibility

About

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.

Enrollment: 400 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

• Clinical diagnosis of Multiple Osteochondroma
• Clinical diagnosis of Osteogenesis Imperfecta

Trial design

400 participants in 2 patient groups

MO patients

Treatment:

Diagnostic Test: NGS molecular screening

OI patients

Treatment:

Diagnostic Test: NGS molecular screening