The role of exome sequencing in childhood interstitial or diffuse lung disease.

ABSTRACT:

Background

Children's interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. We assessed the diagnostic utility of using trio exome sequencing in chILD. We prospectively enrolled children meeting specified clinical criteria between 2016 and 2020 from 16 Australian hospitals. Exome sequencing was performed with analysis of an initial gene panel followed by trio exome analysis. A subset of critically ill infants underwent ultra-rapid trio exome sequencing as first-line test.

Results

36 patients [median (range) age 0.34 years (0.02-11.46); 11F] were recruited from multiple States and

SUBMITTER: Temple SEL 

PROVIDER: S-EPMC9463757 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature