Alagille Syndrome | Testing & Diagnosis

How is Alagille syndrome diagnosed? 

Although the disease is present from birth, it may not be diagnosed until later in childhood, depending on the severity.

To diagnose Alagille syndrome, your child’s physician will do a physical examination and some combination of the following tests:

  • Eye exam - to look for irregularities
  • Spine x-ray - to look for the butterfly-shaped bones
  • Chest exam - to check for a heart murmur
  • Liver biopsy - to examine a sample of liver tissue under a microscope