Background
Haemophilia A is a coagulation disorder caused by defects in the large and complex coagulation factor VIII (FVIII) gene. The bleeding predisposition associated with haemophilia A results from a deficiency or dysfunction of FVIII, with the severity depending on the amount of residual FVIII activity.
Test specific information
This test is patented in certain countries. We offer our clients two options for this test because we are not allowed to perform the test in our laboratory. Firstly, the test can be ordered through a licensee of the patent owner. As a second option, the test can be forwarded to a partner laboratory in non-patented territory. Between these two options, a price difference is in place which is caused by the royalties costs on the test. The tests performed by both labs are technical identical.
Age
The genetic factor is continuously present, and will always be visible.
Throughput
Normally the result can be expected within 25 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 affects the composition of the blood, consequently influencing the coagulation of blood.
Breed dependence
This DNA test is available for the following breeds: Irish setter, Miniature Schnauzer, German Shepherd, Belgian Shepherd, Dutch Shepherd Dog.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Semen, Swab. Please contact PharmaDNA if you wish to submit other material as listed.
Result
The following results are possible for a female: the mode of
Inheritance
is based on recessive or dominant patterns.The following results are possible for a male: - A male animal has the sex chromosome Y and a healthy allel. When used in breeding, this animal will not become affected by the disease, nor will the disease be inherited to the next generation. - A male animal has the sex chromosome Y and a disease allel. When used in breeding, this animal will become affected by the disease. Also, male offspring will receive the Y-chromosome, whereas female offspring will receive the disease allele.
Inheritance
The disease is inherited in an X-chromosomal manner. This means, that female individuals can be free (homozygous normal), affected (homozygous affected) or carrier (heterozygous). Male individuals carry only one copy of the X-chromosome, which results in the effect that male carriers will also be affected. Female carriers may spread the disease in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a disease.
Severity of Disease
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