Alagille syndrome

Alagille syndrome is one of the major forms of chronic liver disease in children. The disease generally presents with jaundice in the neonatal period. The cholestasis is due to absence or paucity of intrahepatic bile ducts, which may not necessarily be demonstrable on histologic exam in the newborn period. The most common cardiac manifestation is peripheral and branch pulmonic stenosis (2/3 of patients), with tetralogy of Fallot occurring in 7-16% of patients. Other associated findings include posterior embryotoxon and retinal pigmentary changes of the eye, vertebral anomalies (“butterfly” vertebrae), absent deep tendon reflexes, and characteristic facial features (broad forehead, deep-set eyes, pointed chin, elongated nose with bulbous tip), giving the face an inverted triangular shape. Published diagnostic criteria are defined by the presence of three out of five characteristic findings of the liver, heart, eye, skeleton, and face, or two of these features if the patient has a positive family history.As there is wide variation in clinical presentation, even within families, the diagnosis of AGS should be considered in any infant with cholestasis. Liver failure requiring transplantation and hepatocellular cancer are complications leading to severe morbidity and mortality. The twenty-year survival in patients with AGS is estimated at 75-80%.

Tests Available

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Identification of individuals with milder manifestations
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Evaluation of family members as possible donors for liver transplantation
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially regarding recurrence risk and prenatal diagnosis


4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81406x1; 81407x1; 81479x1
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.