Fucosidosis is a lysosomal storage disorder caused by deficiency of the enzyme α-L-fucosidase. In healthy animals, this enzyme cleaves complex proteins and lipids so that they can be metabolised. A diseased animal lacks this enzyme whereby the complex proteins and lipids are stored in diverse organs; for example in lymph nodes, pancreas, liver, kidneys, lungs and bone marrow and especially in cerebral and neural tissue. The disease in the Springer Spaniel manifests as a mainly neurological syndrome with mixed motor and mental function deficits. Affected animals show a disturbed coordination of movements, behavioural abnormalities, blindness, deafness and problems in deglutition. The disease occurs between the age of 18 months and 4 years with a progressive course and finally lethal outgoing.
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.