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