Alagille Syndrome Panel
€29.00
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This product is only meant for customers who already purchased a Dante Genome Test
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.
This panel is indicated for those who have a positive family history of the pathology and/or who present typical signs and symptoms of Alagille Syndrome.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
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.
This panel is indicated for those who have a positive family history of the pathology and/or who present typical signs and symptoms of Alagille Syndrome.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- 2 genes
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Alagille syndrome 1
- Alagille syndrome 2
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