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Gangliosidosis GM2 (Poodle Type)

Gangliosidosis GM2 (Poodle Type)

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Test Overview:

Breeders should utilize genetic testing to identify carriers of the HEXB mutation and avoid carrier-to-carrier breeding. This practice reduces the incidence of GM2 gangliosidosis in Poodles. Testing helps maintain breed health and prevents affected puppies from being born

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Hexosaminidase subunit beta (HEXB) on Chromosome 2

Variant Detected:

c.283delG

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the HEXB gene will reliably determine if a dog is a genetic carrier of GM2 gangliosidosis (poodle type).

Research Citation(s):

Rahman, M.M. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). (2012), The Veterinary Journal, 194(3);412–416.

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Cockapoo, Dwarf Poodle, Goldendoodle, Groodle, Labradoodle , Labradoodle Retrodoodle , Mixed Breed, Schnoodle, Toy Poodle,

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