Metabolic diseases are usually caused by mutations in genes that cause enzyme defects, abnormal cell membrane function or receptor defects. The organism biochemical metabolism disorder, resulting in the accumulation of intermediate or bypass metabolites, or the lack of terminal metabolites, leading to a series of clinical symptoms. It usually includes metabolic defects in amino acids, organic acids, sugars, fats, and hormones. Metabolic diseases often show similar and overlapping symptoms and require targeted sequencing to identify diseases and determine the exact subtype.
CD Genomics offers a comprehensive metabolism panel containing 163 genes associated with metabolic diseases. Targeted NGS sequencing technology and Illumina MiSeq instrument are used to detect the genes in this panel, to ensure the efficient and accurate detection of the variation of the target gene, and to assist you in faster and better research on biomarkers, disease targets and other related researches.
(Please submit the information and then download the gene list.)
Raw sequencing data (FASTQ). Mutation discovery and related data analysis can be delivered on request.
Want to customize your exclusive panel? Click here for details.
