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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