Background
Neuronal Ceroid Lipofuscinoses (CL) is a serious neurological disorder causing a degeneration of the central nervous system. The disease is caused by improper storage of energy in elements of cells (lysosomes). The disease usually appears between 3 and 5 years and includes tremors and a loss of balanced. The disease progresses slowly, the dog finding it increasingly difficult to walk. In the final stages, the dog is no longer able to move.
Test specific information
This disease can be caused by several, different, mutations. Consequently, the syndrome is followed by a number to identify different versions in literature.
Age
The disease may show itself on different ages, in which it cannot be estimated when the first symptoms may show themselves. Differences may exist between littermates, and between breeds.
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: Border Collie, Rough Collies, Smooth Collies, Bearded Collie.
Sample type
For this DNA test we accept the following materials: Semen, Blood EDTA, Blood Heparin, Tissue, Swab. 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
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