Article
Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.
Journal of pediatric gastroenterology and nutrition - 1 May 2021
Karpen Saul J, Kamath Binita M, Alexander John J, Ichetovkin Ilia, Rosenthal Philip, Sokol Ronald J, Dunn Shelley, Thompson Richard J, Heubi James E
Abstract excerpt
OBJECTIVES: Cholestasis is caused by a wide variety of etiologies, often genetic in origin. Broad overlap in clinical presentations, particularly in newborns, renders prioritizing diagnostic investigations challenging. In this setting, a timely, comprehensive assessment using a multigene panel by a clinical diagnostic laboratory would likely prove useful. We summarize initial findings from a testing program...
Topics
- Child
- Cholestasis
- Humans
- Infant
- Infant, Newborn
- Mutation
- Sequence Analysis, DNA
- Young Adult