Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity. These phenotypically diverse disorders present as clinical syndromes affecting multiple systems including the central nervous system, muscle function, transport, regulation, immunity, endocrine system, and coagulation. Over 150 different CDGs have been and those affecting N-glycosylation are the most common type.
The Igenomix Congenital Disorders of Glycosylation Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
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