Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Screening for congenital disorders of glycosylation
This testing is used to screen patients for suspected congenital disorders of glycosylation (N- and O-glycosylation defects as well as glycan structure analysis).
Congenital disorders of glycosylation (CDG) encompass over 100 genetic conditions spanning a broad clinical spectrum.
The main CDG profiles that can be identified by this analysis are type I, some type II, and mixed type CDG's.
Suggested Testing Strategy:
Disorder | Target | Mayo Test |
N-glycan, O-glycan, and conserved oligomeric Golgi (COG) complex defects | Transferrin, apolipoprotein CIII | CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum |
N-glycan, O-glycan, and COG complex defects | Serum total N-linked glycans, transferrin, and apolipoprotein CIII | CDGN / Congenital Disorders of N-Glycosylation, Serum |
glycophosphatidylinositol (GPI)-anchored protein glycosylation disorders | CD59, CD55, CD16b, ALP, and aerolysin (FLAER) | Testing may be available on a research basis for these disorders. Contact a BGL genetic counselor for more information. |
alpha-dystroglycanopathies | Genes: DAG1, FKRP, FKTN, ISPD, LARGE1, POMGNT1, POMGNT2, POMT1, POMT2 | CDGNP / CDG Normal Transferrin Panel |
See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instructions.
Affinity Chromatography-Mass Spectrometry (MS)