Background
Von Willebrand disease (vWD) is the most common inherited bleeding disorder, which is highly heterogeneous ranging from an asymptomatic laboratory abnormality to a life threatening bleeding. The condition is caused by a quantitative or qualitative deficiency of von Willebrand factor (vWF). It has been classified into six subgroups based on evaluation of the vWF level and function. The disease is characterized by the abnormally low production of von Willebrands factor which plays a key role in the complex process of clotting a damaged blood vessel. Because it is very uncommon for carriers to show symptoms of vWD this condition is considered to be recessive.
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 results in a reduced clotting of blood. As a result, affected individuals will show increased bloodflow during injuries.
Breed dependence
This DNA test is available for the following breeds: Bernese Mountain Dog, Coton de Tulear, Doberman Pinscher, Drentsche Patrijshond, German Pinscher , Kerru Blue Terrier, Manchester Terrier, Papillion, Pembroke Welsh Corgi, Poodle, Stabijhoun, Dobermann, Dutch Shepherd Dog.
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
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 also 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 also become ill.
Inheritance
This genetic factor is inherited in an autosomal, dominant, mode. This means, that the individual can be free of the mutation (homozygote normal), affected (homozygous affected) or carrier (heterozygous affected). Both carriers and affected individuals will show symptoms of the mutation.
Severity of Disease
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