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Congenital disorders of glycosylation (CDG) are a group of disorders affecting the conjugation of proteins, lipids, and other molecules with oligosaccharides. These disorders cause multi-systemic phenotypes including developmental delays, seizures, hypotonia and hypoglycemia. This next-generation sequencing test can help complement biochemical glycosylation screens in the diagnosis of CDG which assesses the coding regions for 34 genes associated with congenital disorders of glycosylation. These rare conditions are inherited in an autosomal recessive or X-linked manner.

Reasons for Referral:

  • Confirmation of a clinical diagnosis
  • Carrier screening
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

Congenital Disorders of Glycosylation (34 genes): ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM3, GNE, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1, SRD5A3, TMEM165, TUSC3 


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  1. GeneReviews: Congenital Disorders of N-Linked Glycosylation Pathway Overview http://www.ncbi.nlm.nih.gov/books/NBK1332/

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The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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