Background
JEB is characterised by blister formation within the lamina lucida of the basement membrane zone. Clinical signs involve skin malformation resulting in blisters. Different areas of the body are affected, particularly the limbs. Affected foals die soon after birth.
Test specific information
At the moment two JEB-tests are available in different breeds. JEB is being caused by different mutations in the DNA for different horse breeds. Each mutation should be ordered separately.The first DNA test (JEB1) is suitable for draft horses.
The second DNA test (JEB2) is suitable for American Saddlebred.
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 mainly affects the skin.
Breed dependence
This DNA test is available for the following breeds: American Saddlebred.
Sample type
For this DNA test we accept the following materials: Hair, Semen, Blood EDTA, Blood Heparin, 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 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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