Question

How is Crigler-Najjar syndrome diagnosed?

Answer 1

If your baby has jaundice, with a higher bilirubin level than expected in the newborn period, or jaundice develops rapidly within the first few days to weeks after your baby is born, their healthcare provider will offer tests, in addition to a physical exam, to determine what’s causing your child’s skin and the whites of their eyes to turn yellow. Tests to diagnose Crigler-Najjar syndrome include:

• Genetic testing to identify the mutated gene responsible for symptoms.
• Blood and/or stool tests to determine how much bilirubin (unconjugated) is in their blood and stool, such as a liver function test or a complete blood count.
• Bilirubin blood test to detect how much bilirubin is in their blood.

Their healthcare provider will also ask if you have a history of genetic conditions in your family to pinpoint the diagnosis before testing.