€57,48 €47,50 IVA no incluido
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
15 días laborables
Especificaciones
| Breeds | |
|---|---|
| Organ | |
| Gene | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | Autosómico recesivo |
| Chromosome | 9 |
| Also known as | MPS IIIB, MPS3B, MPS 3B and MPSIIIB |
| Mutation | c.2110_2111ins[A(40_70);2100_2110] |
Información específica de la prueba
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This test analyses a variant of Mucopolysaccharidosis type IIIB (also called MPS3B or Sanfilippo Syndrome type B) found in the Schipperke. This variant is caused by a recessive defect to the gene NAGLU.
Características clínicas
Onset of MPS IIIB typically starts around two years of age. Symptoms include ataxia (a lack of coordination) with dysmetria (an inability to judge distances while walking or otherwise moving), a wide stance and minor degeneration of the retinas. Symptoms gradually progress in severity, often leading to euthanasia being required before six years of age.
Información adicional
Referencias
Pubmed ID: 32081995
Year published: 2020
Omia ID: 1342
Omia variant ID: 956