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H317 Macular Corneal Dystrophy

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 10 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. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Swab, Tissue. Please contact Dr. Van Haeringen Laboratorium 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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Dog

Macular Corneal Dystrophy

Code H317
€ 47,80 (incl. 21% VAT)
€ 39,50 (excl. VAT)
Quantity