Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation (CDG)
Also known as: CARBOH-CDG
Use
The Carbohydrate Deficient Transferrin (CDT) test is used as a screening tool for congenital disorders of glycosylation (CDG), which are a group of genetic disorders that affect glycosylation, a process essential for proper protein function. This test measures the isoforms of transferrin which can be altered in CDG. Abnormal transferrin isoforms are indicative of CDG disorders, particularly type I disorders. The test can provide valuable information for further clinical management and diagnosis.
Special Instructions
The patient's age and reason for referral must be provided with each specimen submitted for testing. This test is not performed at ARUP Laboratories; hence, separate specimens are required if multiple tests are ordered. For inquiries or further interpretation needs, contacting a Biochemical Genetics consultant or genetic counselor is recommended.
Limitations
The CDT test may not differentiate between different types of CDG without additional molecular analysis or enzyme assays. Abnormal patterns can also occur in the context of liver diseases, both genetic and non-genetic, which may complicate interpretation. Some newborns with CDG may normalize their transferrin glycoform patterns, possibly overlooking a CDG diagnosis, thus repeating the test after a few weeks in such suspected cases is advised.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 35469-6
- 35475-3
- 53808-2
- 42349-1
- 18771-6
- 90420-1
- 90421-9
- 90419-3
Result Turnaround Time
5-13 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.1 mL
Minimum Volume
0.05 mL
Container
ARUP Standard Transport Tube
Collection Instructions
Transfer 0.1 mL serum to an ARUP Standard Transport Tube. Patient age is required on the test request form.
Storage Instructions
Frozen. Also acceptable: Room temperature or refrigerated.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 28 days |
| Frozen | 45 days |