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Screening for congenital disorders of glycosylation

Screening for congenital disorders of glycosylation
Test Type(s) of CDG
Serum transferrin glycosylation/isoform analysis Some N-linked and mixed glycosylation disorders
ApoC-III isoform analysis Some O-linked and mixed glycosylation disorders
N-glycan profiling N-linked and mixed N- and O-linked glycosylation disorders[1]
O-glycan profiling A subset of mixed N- and O-linked glycosylation disorders[1]
Urine oligosaccharide analysis by mass spectrometry MOGS-CDG
PMM2 or MPI enzymatic analysis in leukocytes or fibroblasts Clinically available for diagnosis of PMM2-CDG and MPI-CDG, especially if needed to clarify variants of uncertain significance in PMM2 or MPI
DNA sequence analysis Single-gene versus panel versus clinical-exome versus whole-genome sequencing depending on the specificity of the clinical presentation and biochemical marker analysis
These tests are available in specialized clinical biochemical laboratories, including Mayo Medical Laboratories (3050 Superior Dr. NW, Rochester, MN 55905) and EGL Genetics (2460 Mountain Industrial Boulevard, Tucker, Georgia 30084).
CDG: congenital disorder of glycosylation; MOGS: mannosyl-oligosaccharide glucosidase; PMM2: phosphomannomutase 2; MPI: mannose phosphate isomerase.
Reference:
  1. Faid V, Chirat F, Seta N, et al. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis. Proteomics 2007; 7:1800.
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