Individuals who exhibit signs and symptoms of CDG should be referred for diagnostic testing to confirm they have this condition. Most CDG patients can be diagnosed by a simple blood test to analyze the glycosylation status of transferrin (Tf). Abnormal Tf is detected by isoelectric focusing (IEF), or by electrospray ionization-mass spectrometry (ESI-MS). Once CDG is diagnosed, further testing is required to determine the type of CDG.
Diagnosis of CDG Physician Information:
Test Name: Carbohydrate Deficient Transferrin Test
Method: ESI-MS method superior to IEF, CE (Capillary Electrophoresis), or HPLC (High Performance Liquid Chromatography)
Laboratory: Mayo Medical Laboratories Test (82414); CPT Code 82373
Requirments: Requires: 0.1 ml of serum
Detection: Will detect all known CDG-I types, many CDG-x. Will not detect: CDG-IIb, CDG IIc, CDG-IIf. Test may need to be rerun if done less than 2 weeks of age.
Mayo Medical Laboratories
Request: Carbohydrate Deficient Transferrin, serum. Test code 82414.