Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.
Yu Jeong ChoiHongkyung KimWon Kee AhnSeung Tae LeeJung Woo HanJong Rak ChoiChuhl Joo LyuSeung Min HahnSaeam ShinPublished in: BMC medical genomics (2023)
Here, NGS played a critical role in definitive diagnosis in 18 out of 29 patients (62.07%) with suspected HHA. Thus, its incorporation into the diagnostic workflow is crucial.