PMM2-CDG can be diagnosed by:
A simple blood test to analyze the glycosylation status of transferrin can diagnose PMM2-CDG
Abnormal transferrin patterns can be detected through a test known as isoelectric focusing (IEF).
Molecular genetic testing can confirm a diagnosis of PMM2-CDG
Advanced imaging techniques, such as MRI, CT scans, can be used to confirm symptoms or features associated with PMM2-CDG