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Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 17 |
| Mutation | c.1777C>T |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | CHG |
Información específica de la prueba
Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism. The disease is caused by a mutation in the thyroid peroxidase (TPO) gene. Hereditary CHG is an autosomal recessive disorder. Thyroid peroxidase is a multi-functional enzyme required for thyroid hormone synthesis.
Características clínicas
Los signos clínicos incluyen retraso en la apertura de los ojos y los canales auditivos, mala lactancia, inactividad, falta de respuesta a los estímulos ambientales, macroglosia e hipomielinización del sistema nervioso central.
Información adicional
Referencias
Pubmed ID: 23113744
Year published: 2012
Omia ID: 536
Omia variant ID: 50