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Thrombocytopenia or macrothrombocytopenia (MTC) is an inherited disorder that is characterized by a reduced number of blood platelets (thrombocytes).
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Información específica de la prueba
Thrombocytopenia or macrothrombocytopenia (MTC) is an inherited disorder that is characterized by a reduced number of blood platelets (thrombocytes). Many of the remaining thrombocytes are enlarged. Thrombocytes play an important role in the clotting of blood (a.k.a. coagulation). There are two mutations identified in the ß1-tubulin (TUBB1) gene to cause a reduction in thrombocytes. Depending on the variant, symptoms may range from prolonged bleeding times to an apparently healthy animal.
The variant in this test of the disorder is found in the Norfolk Terrier and Cairn Terrier, and is caused by a recessive mutation to the gene TUBB1. A related version occurs in the Cavalier King Charles Spaniel.
Características clínicas
Los perros afectados están clínicamente sanos, pero los análisis de sangre revelarán una reducción del número de trombocitos, que también podrían estar agrandados. También puede producirse una reducción del número de trombocitos debido a infecciones, medicaciones o reacciones inmunitarias. Por lo tanto, las pruebas genéticas son cruciales para un diagnóstico preciso y un tratamiento adecuado.
Información adicional
Referencias
Pubmed ID: 25060661
Omia ID: 2434