Background:
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
Methodology:
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References:
- GeneReviews: Congenital Disorders of N-Linked Glycosylation Pathway Overview http://www.ncbi.nlm.nih.gov/books/NBK1332/
Additional Info: