CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

Test Catalog

Test Name

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

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

 

Highlights

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.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Affinity Chromatography-Mass Spectrometry (MS)

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

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

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)