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
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 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
This DNA test is available for the following breeds: Domestic Short Hair.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Swab. Please contact PharmaDNA if you wish to submit other material as listed.
Result
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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