2 doctors weighed in:
What are the tests for alagille syndrome?
2 doctors weighed in

Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral
In brief: Genetic test, like
Cgh for an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12.
Because of "variable penetrance" some parents don't have noticeable symptoms, especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested.

In brief: Genetic test, like
Cgh for an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12.
Because of "variable penetrance" some parents don't have noticeable symptoms, especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested.
Dr. Johanna Fricke
Dr. Johanna Fricke
Thank
Dr. David Doucette
Obstetrics & Gynecology
In brief: Liver biopsy
Liver biopsy is probably the most effective means of diagnosis.
Many people with alagille syndrome do have characteristic facial features and some unusual x-ray findings but not in all cases.

In brief: Liver biopsy
Liver biopsy is probably the most effective means of diagnosis.
Many people with alagille syndrome do have characteristic facial features and some unusual x-ray findings but not in all cases.
Dr. David Doucette
Dr. David Doucette
Thank
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