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 |
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