Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

ABSTRACT:

Introduction

RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies.

Materials and methods

The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies.

Results

Twenty-four patients had pathogenic variants on the RASopathy panel, for a diagnostic yield of 19%. Reported featu

SUBMITTER: Bhoj EJ 

PROVIDER: S-EPMC6095193 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature