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  • Molecular assay reagents intended to identify gene variants associated with congenital disorders of glycosylation, a collection of heritable disorders characterized by deficiencies in the addition of specific carbohydrate moieties to proteins and/or lipids (i.e., glycosylation). Genetic variants and multiple loci have been associated with congenital disorders of glycosylation. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple congenital disorder of glycosylation-associated loci simultaneously.
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