Purpose/Principle

The CHCO Methylmalonic aciduria homocystinuria (MMA_HC) Panel utilizes next-generation sequencing technology to detect genomic variants in genes that are associated with increased levels of organic acids and/or homocysteine in the blood. This test is useful for the diagnosis of patients who are suspected to have methylmalonic aciduria, homocystinuria, or combined defects of cobalamin metabolism based on clinical symptoms, biochemical findings, or abnormal newborn-screening results. The panel evaluates the coding regions and adjacent intronic bases of 33 genes for DNA variants. Copy number events are assessed by supplementing the exonic regions of interest with uniformly placed genomic hybridization probes. The assay is designed to detect SNV and small indel events with >99% accurate and CNV events with a >1 MB resolution.