Alagille Syndrome Panel – 2 genes
The Igenomix Alagille Syndrome Panel can be used to make a directed and accurate differential diagnosis of jaundice in the newborn, for an early initiation of treatment leading to a better prognosis of the disease.
Overview
- The Igenomix Alagille Syndrome Panel can be used to make a directed and accurate differential diagnosis of jaundice in the newborn, for an early initiation of treatment leading to a better prognosis of the disease.
- Alagille syndrome is a disorder that is associated with problems in several different body organs including – liver disease, congenital heart conditions, abnormalities in the eye and characteristic facial features.
- Alagille syndrome can present differently, and the clinical symptoms of affected individuals can be very variable. It is characterized by an obstruction of the biliary tree and decreased excretion of bilirubin causing hyperbilirubinemia and jaundice.
- The different manifestations of Alagille syndrome can be deadly if treatment and management is not administered appropriately. This condition is inherited in an autosomal dominant manner and most cases occur due to a de novo variant. Additionally, Alagille syndrome is associated with variable expression and so the clinical features cannot be predicted with molecular testing.
Indication
The Igenomix Alagille Syndrome Panel is indicated for those patients with a clinical suspicion or diagnosis of the disease, presenting with the following symptoms:
- Hepatic anomalies
- Renal anomalies
- Cardiac anomalies
- Characteristic facial features
- Eye problems
- Bile duct paucity
- Abnormality in the vertebrae
Genes & Diseases
| GENE | OMIM DISEASES | INHERITANCE | % GENE COVERAGE (20X) | HGMD* |
| JAG1 | Alagille Syndrome 1, Tetralogy of Fallot | AD | 99.98% | 640 of 641 |
| NOTCH2 | Acroosteolysis Dominant Type, Alagille Syndrome 2 | AD | 99.88% | 91 of 91 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance
** HGMD: Number of clinically relevant mutations according to HGMD
References
Mitchell, E., Gilbert, M., & Loomes, K. M. (2018). Alagille Syndrome. Clinics in liver disease, 22(4), 625–641. https://doi.org/10.1016/j.cld.2018.06.001
Turnpenny, P. D., & Ellard, S. (2012). Alagille syndrome: pathogenesis, diagnosis and management. European journal of human genetics: EJHG, 20(3), 251–257. https://doi.org/10.1038/ejhg.2011.181
Ayoub, M. D., & Kamath, B. M. (2020). Alagille Syndrome: Diagnostic Challenges and Advances in Management. Diagnostics (Basel, Switzerland), 10(11), 907. https://doi.org/10.3390/diagnostics10110907
Ohashi, K., Togawa, T., Sugiura, T., Ito, K., Endo, T., Aoyama, K., Negishi, Y., Kudo, T., Ito, R., & Saitoh, S. (2017). Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. Acta paediatrica (Oslo, Norway : 1992), 106(11), 1817–1824. https://doi.org/10.1111/apa.13981