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Article

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Molecular genetics and metabolism - 1 Jan 2000

Jones Melanie A, Rhodenizer Devin, da Silva Cristina, Huff Israel J, Keong Lisa, Bean Lora J H, Coffee Bradford, Collins Christin, Tanner Alice K, He Miao, Hegde Madhuri R

Abstract excerpt

Congenital disorders of glycosylation (CDG) are comprised of over 60 disorders with the majority of defects residing within the N-glycosylation pathway. Approximately 20% of patients do not survive beyond five years of age due to widespread organ dysfunction. A diagnosis of CDG is based on abnormal glycosylation of transferrin but this method cannot identify the specific gene defect. For many individuals...

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PMID: 23806237
DOI: 10.1016/j.ymgme.2013.05.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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