JAG1 Deletion/Duplication

Test Background

Alagille syndrome involves multiple organ systems, but the primary features include cholestasis evidenced by bile duct paucity on liver biopsy, congenital heart defects typically involving the pulmonary arteries, posterior embryotoxon in the eye, typical facial features, and butterfly vertebrae. Expressivity is variable even within families. This condition is inherited in an autosomal dominant manner. Approximately 30-50% of cases are inherited, while 50-70% are de novo. Most cases of Alagille syndrome are caused by sequence variants of the JAG1 gene followed by deletions/duplications (5-7%). Less than 1% of cases are caused by mutations in the NOTCH2 gene. This laboratory performs both Sanger sequencing and deletion/duplication by MLPA for the JAG1 gene.


Alagille syndrome



Lab Method


About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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