Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

ABSTRACT:

Background

Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical care, guide future medical management and treatment, and inform assessment of risk for familial recurrence. The molecular diagnostic utility of multi-gene panel testing using next-generation sequencing (NGS) has not yet been characterized for an unselected population of individuals with suspected skeletal dysplasia. In this study, we retrospectively reviewed patient reports to assess the diagnostic yield, reported variant characteristics, impact of copy number variation, and performance in prenatal diagnostics of panel tests for varia

SUBMITTER: Scocchia A 

PROVIDER: S-EPMC8501536 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature