57,48 47,50 IVA esclusa

H418

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This variant of the disease, known as Mucopolysaccharidosis Type IIIA (MPS IIIA), or as Sanfilippo Syndrome, is found in the Dachshund. The variant is caused by a recessive mutation to the gene SGSH (sometimes called HSS). A closely related variant is also found in the New Zealand Huntaway Dog.

Caratteristiche cliniche

Affected dogs present at adulthood with slowly progressing spinocerebellar ataxia; a gradual loss of coordination, mainly in the limbs and head. Veterinary analysis can confirm the diagnosis with the presence of heparan sulfate in the urine.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 10950929

Omia ID: 1309

Come funziona?

1. Seleziona il tuo/tuoi prodotto/i

Seleziona un singolo test, un pacchetto CombiBreed o crea il tuo pacchetto personalizzato

2. Raccogli il campione di DNA

Campiona il DNA come indicato nei nostri prodotti e invialo al nostro laboratorio

3. Risultati

Ci occupiamo del tuo DNA con cura e ti forniamo i risultati del test

Prodotti correlati