Diagnostic Test for Alagille Syndrome


Identifies Jagged 1 mutations and intragenic alterations


Market Need


Alagille syndrome (AGS) is a highly variable, multi-system, autosomal dominant disorder that affects at least 1 in 70,000 newborns. It is often associated with neonatal jaundice and has traditionally been diagnosed based on bile duct paucity and resultant liver disease, in combination with cardiac, skeletal, ocular, and facial abnormalities. However, establishing a diagnosis of AGS can be difficult due to significant variability in severity of the condition, clinical features, and pattern of disease manifestation.


Technology Overview

Dr. Nancy Spinner and her team discovered that AGS is caused by a mutation or deletion of the Jagged1 (JAG1) gene and have developed a highly sensitive molecular test that can detect mutations in approximately 95 percent of AGS patients. Roughly 88 percent of mutations are detected through sequence analysis and about 7 percent are found using deletion/duplication testing. Mutations and intragenic alterations detected by this test include total gene deletions, protein truncating, splicing, and missense mutations, all of which are distributed throughout the coding region of the gene.



•       Compared with currently available tests, screening the JAG1 gene with this technology provides the highest mutation detection rate for AGS.

•       Early detection of mutations in the JAG1 gene by prenatal diagnosis provides information during pregnancy regarding possible AGS in the fetus.


•       Confirm a clinical diagnosis of AGS by detecting a mutation or deletion in the JAG1 gene.

•       Correctly identify the mutation or deletion of JAG1 in individuals with AGS and their parents to allow clinicians to provide genetic counseling for family members who are likely to have the same genetic alteration.


Stage of Development: Proof of concept demonstrated in more than 500 patients with clinically diagnosed AGS. 

Case ID:
Web Published:
Patent Information:
For Information, Contact:
Camille JollY-Tornetta
Assistant Director
The Children's Hospital of Philadelphia
Nancy Spinner
Ian Krantz
Alagille Syndrome (AGS)