Alagille syndrome diagnostic criteria
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Diagnostic Criteria
To make a diagnosis of Alagille syndrome, a positive liver biopsy and the presence of three of the following symptoms are usually required:
- liver symptoms
- heart abnormalities or murmurs
- skeletal abnormalities
- posterior embryotoxon
- facial features typical of Alagille syndrome
A blood sample may also be tested to look for the JAG1 gene mutation. The gene mutation can be identified in 95 percent of people with a diagnosis of Alagille syndrome based on signs and symptoms.[1] A person can also be diagnosed with Alagille syndrome if the JAG1 gene mutation alone is present—even when no major symptoms of the disorder are evident.
References
- ↑ Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez P, Piccoli DA, Krantz ID, Spinner NB. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Human Mutation. 2006;27(5):436–443.