Background
Dilated cardiomyopathy (DCM), the most common form of cardiomyopathy, often leads to heart failure and sudden death.
Test specific information
Different risk factors for DCM have been discussed in the scientific community. Some seem to show a line-specific effect, indicating quite recent new mutational events. However, based on the current scientific literature, the PDK4 mutation is the only significant mutation in Dobermans causing DCM but could lead to confusing results as the mutation might be not significant in the line of the dog of interest.
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 leads to a loss of heart function.
Breed dependence
This DNA test is available for the following breeds: Doberman Pinscher, Dobermann, Boxer, Irish Wolfhound.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Swab, Semen. 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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