TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: CDGP    
Congenital Disorders of Glycosylation Genetic Panels, Next-Generation Sequencing, Varies

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 (CDG)

 

Second-tier test for individuals with negative targeted gene mutation analyses for specific CDG-related genes 

 

Establishing, in some cases, a diagnosis of or carrier status for a CDG

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)

-Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

 

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.

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.

The recommended first-tier test to screen for congenital disorders of glycosylation (CDDG) is a biochemical test that analyses transferrin and apolipoprotein CIII (CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum). The results of the transferrin and apolipoprotein CIII isoform analysis should be correlated with the clinical presentation to determine the most appropriate testing strategy. If transferrin testing (CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum) has been performed, then consider either _G110 / Normal Transferrin CDG Panel (Bill Only) or _G111/ Abnormal Transferrin CDG Panel (Bill Only) may be the more as the appropriate subpanel option. See clinical information for recommended first-tier biochemical testing.

 

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

 

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 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

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) 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
B3GALTL
B3GNT1
Custom Gene Ordering
Custom Gene Panel
Custom NGS Panel
Custom ordering
Custom Panels
Custom Sequencing Panels
Custom sequencing test
Customizable Hereditary Panels
Customizable Panels