Custom Metabolic Disorders Panels

Metabolic disorders are diseases caused by defects in the synthesis of certain enzymes (composed of peptides and proteins), receptors, carriers and membrane pump organisms necessary for normal metabolism, resulting in the accumulation or deficiency of sugar, fat, protein, purine, calcium and copper. Most metabolic diseases are hereditary diseases.

CD-Genomics provides a genetic testing platform for metabolic diseases such as Lysosomal Storage Disorders, Urea Cycle Disorders, Fatty Acid Oxidation Disorder and Familial Hypercholesterolemia to accelerate the development of targeted drugs and etiology research of these diseases. In addition to the genes listed in panel, you can tell us about other genes you want to detect, and our experts will customize your own panel for you. CD-Genomics utilizes ultra-deep targeted NGS sequencing technology for mutation detection. Low frequency mutations can also be detected.

This panel contains 88 genes related to diseases such as mucopolysaccharide storage disease, mucolipidosis disorders, sphingolipid deposition disease and glycogen storage disease.

The panel contains 56 genes associated with urea cycle disorders, including NAGS, CPSI, OTC, ASS, ASL and ARG.

The panel contains 23 genes that cause the lack of enzymes required for fatty acid oxidation.

This panel contains 10 genes associated with familial hypercholesterolemia, including APOB, LDLR and PCSK9 genes and other related genes.

* For Research Use Only. Not for use in diagnostic procedures.

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