El Panel de Síndrome de Igenomix Alagille está indicado para aquellos pacientes con sospecha clínica o diagnóstico de la enfermedad, que presenten los siguientes síntomas:
| 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 |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
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
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