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Test ID: CDG    
Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

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Useful For Suggests clinical disorders or settings where the test may be helpful

Screening for congenital disorders of glycosylation

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Affinity Chromatography-Mass Spectrometry (MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

CDG, S

Aliases Lists additional common names for a test, as an aid in searching

CDG (Congenital Disorders of Glycosylation)
CDGS (Carbohydrate Deficient Glycoprotein Syndrome)
CDT (Carbohydrate Deficient Transferrin)
Congenital Disorders of Glycosylation (CDG)
Glycoprotein Syndrome, Carbohydrate Deficient
Transferrin for Carbohydrate Deficient Transferrin (CDT)
Transferrin Isoforms
Carbohydrate Deficient Glycoprotein Syndrome (CDGS)