GM1 and GM2 belong to a group of inherited diseases known as “lysosomal storage diseases”. They are characterised by the accumulation of unprocessed material in enlarged lysosomes. The gangliosidoses are progressive, fatal neurological diseases of cats, humans and other animals where gangliosides accumulate principally in neuronal lysosomes. There are two types of gangliosidoses, GM1 and GM2 gangliosidosis. Affected kittens have head tremors at the beginning followed by impaired co-ordination of leg movements which eventually lead to paralysis. Although both types of gangliosidoses cause fatal progressive brain disease, they are caused by entirely different genetic errors of two different lysosomal enzymes. GM1 gangliosidosis is due to an inherited deficiency of the enzyme beta-galactosidase, whereas GM2 gangliosidosis is caused by a lack of the enzyme beta-hexosaminidase.
The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.
Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer. Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.