CONGENITAL DISORDERS OF GLYCOSYLATION: CLINICAL EXOME PANEL (Sec. & CNVs) – 128 genes

The Congenital Disorders of Glycosylation (CDG) panel analyzes 128 genes associated with defects in the enzymatic pathways responsible for the addition and processing of oligosaccharide chains in proteins and lipids, a process essential for their stability, localization, and biological function. CDGs comprise a heterogeneous group of inherited, multisystemic metabolic disorders that can present with developmental delay, hypotonia, dysmorphic features, and hepatic, endocrine, muscular, ocular, immunological, and neurological abnormalities. This panel includes genes involved in the main types of CDG, such as defects in dolichol-phosphate synthesis and precursor oligosaccharide assembly (PMM2, MPI, ALG1, ALG6, ALG9, DPM1), protein glycosylation (COG1–COG8, DDOST, RFT1), O-glycosylation (POMT1, POMT2, POMGNT1, POMGNT2), and glycosaminoglycan biosynthesis (B3GALT6, CHST3, CHSY1). Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows for the comprehensive identification of pathogenic variants in genes responsible for the different CDG subtypes. Some of the genes included in this panel are: PMM2, MPI, ALG6, DPM1, COG5, POMT1, POMGNT1, SLC35A2, RFT1, and SRD5A3, among others. You can consult the complete list of genes by contacting Genotica.