EP337: Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology

Abstract

Clinicians are constantly faced with the challenging dilemma to choose the best diagnostic tools when diagnostic yield and turnaround time (TAT) are both very important for clinical management of critically ill children with a suspected genetic etiology. Compared to various genetic tests genome sequencing with rapid processing and analysis can provide the most comprehensive “all in one” solution by interrogating not only small nucleotide variations (SNV), but also copy number variations (CNV), short tandem repeats (STR), and mitochondrial genome variations (mtDNA).