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€57,48 €47,50 excl. VAT

K383

There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease. This mutation for GM2 has been found in the β-subunit gene (HEXB), causing a deficiency of β-N-acetylhexosaminidase activity. GM2 is an autosomal recessive disorder.

Clinical features

Clinical signs appear around 2 months of age and include neurological symptoms such as (severe) muscle tremors and loss of motor control. Therefore, leading to difficulty with coordination and eating and sometimes even to paralysis. The affected Burmese kittens often do not survive longer than 6 months.

Additional information

References

Pubmed ID: 19231264

Omia ID: 1462

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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