Background
Episodic falling (EF) IS also known as sudden collapse, muscle hypertonicity and hyperekplexia. The disease is usually induced by e.g. exercise or excitement.
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
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become 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 leads to a loss of brain function.
Breed dependence
This DNA test is available for the following breeds: Cavalier King Charles Spaniel.
Sample type
For this DNA test we accept the following materials: Swab, Tissue, Semen, Blood EDTA, Blood Heparin. 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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