Background
Macular corneal dystrophy (MCD) is a rare hereditary disease that occurs in Labrador Retrievers. Due to accumulation of glycosaminoglycans, progressive clouding of the cornea is observed in affected individuals. A study conducted with dogs of this breed identified a causal mutation in the canine carbohydrate sulfotransferase-6 (CHST6) gene. The disease is inherited as a recessive condition and can cause visual impairment in affected dogs.
Test specific information
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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 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: Labrador Retriever.
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
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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