Alagille Syndrome Report
Alagille Syndrome
Alagille syndrome (ALGS) is a rare genetic disorder impacting multiple body systems. These manifestations encompass liver-related issues like chronic cholestasis, cardiac abnormalities such as pulmonary artery atresia or stenosis, atrial and/or ventricular septal defects, Tetralogy of Fallot, skeletal anomalies like butterfly vertebrae, ocular abnormalities, distinctive facial features and endocrine system disorders such as hypothyroidism. Particularly, chronic cholestasis may manifest with symptoms like itching, conjugated hyperbilirubinemia, hepatosplenomegaly (enlargement of the liver and spleen), hypercholesterolemia, hypertriglyceridemia, and coagulopathy, potentially leading to severe liver failure. The majority of Alagille syndrome cases stem from mutations in the JAG1 gene (type 1 disease), while occurrences due to mutations in the NOTCH2 gene (type 2 disease) are considerably less common.
2 genes genes analyzed
It is recommended if:
This report is indicated for those who have a positive family history of the pathology and/or who present typical signs and symptoms of Alagille Syndrome.
List of main conditions:
- Alagille syndrome 1
- Alagille syndrome 2
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Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.
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*Raw data will be available free of charge for the first 30 days after release.
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