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
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp


How will my data be used?

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.

How can my doctor use the results?

You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you. 

How will I receive my reports?

The first thing to do when you receive your kit is to register it on your Genome Manager account. Dante's proprietary platform will keep you up-to-date on all stages of your genetic journey, providing you with the real-time status of your sample and where you can download your free report and raw data* at any time.

*Raw data will be available free of charge for the first 30 days after release.

How can I add other reports to my account?

At any time, you can log into your Genome Manager account and visit the Shop section. Here you will find a catalog with more than 150 additional reports dedicated to all areas of health. In addition, by subscribing to our newsletter you can always see new reports and panel updates.

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