Multi-Locus Molecular Findings in Pediatric-Onset Inherited Metabolic Disorders: An Eight-Year Series of Outsourced Genomic Testing in Taiwan

Background/Objectives: Outsourced genomic testing can identify additional findings in patients with inherited metabolic disorders (IEMs), including lysosomal storage diseases. We examined these findings in a selected Taiwanese series.

Methods

We retrospectively reviewed 13 patients referred during 2018-2025 with a reported or suspected metabolic diagnosis. Whole-exome sequencing (WES) was initially used mainly after inconclusive testing or for incompletely explained phenotypes and was used more broadly later. The original registry also records whole-genome sequencing (WGS) for two included patients. We distinguished reported gene-level findings from diagnoses supported by pathogenic or likely pathogenic (P/LP) variants at each locus.