Test Catalog

Test ID: CDGP    
Congenital Disorders of Glycosylation Genetic Panels by Next-Generation Sequencing (NGS)

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

Identifying mutations within genes known to be associated with congenital disorders of glycosylation

 

Second-tier test for individuals with negative targeted gene mutation analyses for specific congenital disorders of glycosylation-related genes

 

Establishing in some cases a diagnosis of or carrier status for a congenital disorder 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 test includes next-generation sequencing and Sanger sequencing to evaluate for the genes listed on the panel. See Targeted Genes and Methodology Details for Congenital Disorders of Glycosylation (CDG) Genetic Panels by Next-Generation Sequencing (NGS) in Special Instructions.

 

This ordered service includes the option for 1 of several glycosylation disease-related panel tests to be performed. Testing options include the following:

-Comprehensive CDG Panel (116 Genes)

-Normal Transferrin CDG Panel (60 Genes)

-Abnormal Transferrin CDG Panel (51 Genes)

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel under FMTT / Familial Mutation, Targeted Testing. Call 800-533-1710 to obtain more information about this testing option.

Highlights

1) CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum is recommended as a first tier test

2) If transferrin testing (CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum) has been performed, then _G110 / Normal Transferrin CDG Panel or _G111 / Abnormal Transferrin CDG Panel may be the more appropriate subpanel.

3) Testing can be used to confirm a diagnosis of a congenital disorder of glycosylation

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
_G109Comprehensive CDG PanelNo, (Bill Only)No
_G110Normal Transferrin CDG PanelNo, (Bill Only)No
_G111Abnormal Transferrin CDG Panel No, (Bill Only)No
CULFBFibroblast Culture for Genetic TestYesNo

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

See clinical information for recommended first-tier biochemical testing.

 

If skin biopsy is received, fibroblast culture will be added and charged separately.

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

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.

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 Molecular Panel

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

Carbohydrate Deficient Glycoprotein Syndrome (CDGS)
CDG (Congenital Disorders of Glycosylation)
CDGS (Carbohydrate Deficient Glycoprotein Syndrome)
CDT (Carbohydrate Deficient Transferrin)
Congenital Disorders of Glycosylation (CDG)
Glycoprotein Syndrome, Carbohydrate Deficient
Next Gen Sequencing Test
CDGP