EVG, molekularna diagnostika
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SI-2000 Maribor  

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Gangliosidosis is an inherited error of lipid metabolism, also known as a 'lysosomal storage disease'. An autosomal recessively inherited deficiency of acid β-galactosidase activity affects brain and multiple systemic organs.


Toy Poodle dogs affected with GM2- gangliosidosis develop nervous system clinical signs including vision loss, walking difficulties, loss of balance, head tremors and vomiting. First symptoms appear around 9 to 12 months of age, the disease progression is rapid and dogs usually die between the age of 18 and 23 months.


Inheritance: autosomal recessive - read more

Mutation: HEXB gene

Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: Toy Poodle

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.


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