Background
Cerebellar cortical degeneration (CCD) refers to a heterogeneous group of diseases, which are caused by various mutations in different genes. It has been reported in several dog breeds and exhibits a wide range of age of onset and rate of progression between the breeds. A typical histopathological finding is a diffuse loss of Purkinje cells in the cerebellar cortex. In the Hungarian Vizsla breed, a recessively inherited mutation in the SNX14 gene was identified, which leads to absence of SNX14 protein in the cerebellum of CCD affected dogs.
Test specific information
-
Age
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease leads to a loss of brain function.
Breed dependence
This DNA test is available for the following breeds: Magyar Vizsla.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Swab, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
Inheritance
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease
-
