Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.

ABSTRACT:

Background

Disorders involving the musculoskeletal system are often identified with short stature and a range of orthopedic problems. The clinical and genetic heterogeneity of these diseases along with several characteristic overlaps makes definitive diagnosis difficult for clinicians. Hence, using molecular testing in addition to conventional tests becomes essential for appropriate diagnosis and management.

Methods

Comprehensive clinical examination, detailed pretest and posttest counseling, molecular diagnosis with next-generation sequencing (NGS), genotype-phenotype correlation and Sanger sequencing for targeted variant analysis.

Results

This manuscript reports a molecular spectrum of variants in 34 orthopedic cases referred to a single genetic unit attached to a t

SUBMITTER: Iyer GR 

PROVIDER: S-EPMC8818190 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature