Next-generation sequencing plays a critical role in guiding the most appropriate management strategies and in providing invaluable insights for genetic counseling, thereby enhancing the precision and efficacy of both diagnosis and treatment in the realm of genetic disorders.[14–16] Our highlighted case, where 2 unique mutations (c.4237(exon30)_c.4238(exon30)ins CT and c.517(exon5)G > A) on the chromosome 10 locus in the ABCC2 gene were observed, is emblematic of compound intricacies. Here, ABCC2 is linked to hereditary disease.