Alagille syndrome, or ALGS, is a rare genetic disorder that can affect the liver, heart, skeleton, eyes and kidneys. Symptoms and severity of ALGS can vary greatly from one person to another. Symptoms often develop during the first three months of life and include interrupted bile flow (cholestasis), jaundice, poor weight gain and growth, and severe itching (pruritis). ALGS is an autosomal dominant disorder, meaning that a child may be affected when one parent passes on a copy of the abnormal gene (JAG1 or NOTCH2). In other cases, the gene mutation can occur spontaneously, meaning it is not inherited from a parent. According to the National Organization for Rare Disorders (NORD), the estimated incidence of ALGS is between 1 in 30,000 to 1 in 45,000 births.
Laboratory: EGL Genetics
Genetic testing for pediatric patients with cholestasis or prolonged jaundice without a known cause. The test checks for 66 potential genetic causes of cholestasis.