Background
The gangliosidoses are inherited diseases of a category known as lysosomal storage diseases. Affected kittens have head tremors at the beginning followed by impaired co-ordination of leg movements which eventually lead to paralysis. Although various types of gangliosidosis cause fatal progressive brain disease, they are caused by entirely different genetic errors of lysosomal enzymes. GM2 gangliosidosis is caused by a lack of the enzyme beta-hexosaminidase.
Test specific information
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Age
The genetic factor is continuously present, and will always be 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 is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
Breed dependence
For this test samples from all breeds are accepted.
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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