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

  • Confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for liver transplantation
  • Identification of mutation carriers with milder manifestations
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis


4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs


81406x1, 81407x1
  • 576.8 Other specified disorders of biliary tract Adhesions of bile duct [any], Atrophy of bile duct [any], Cyst of bile duct [any], Hypertrophy of bile duct [any], Stasis of bile duct [any], Ulcer of bile duct [any]
  • 745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 571.9 Unspecified chronic liver disease without mention of alcohol
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