Background
Dry Eye Curly Coat Syndrome is a congenital condition that affects the skin, eyes and nails. The syndrome is formally referred to as congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID). This condition, which was first reported in the scientific literature in 2006, manifests at birth. Further clinical signs become evident in early life. Cases present with a congenitally abnormal (rough/curly) coat, signs of keratoconjunctivitis sicca (KCS) from eyelid opening, and are usually smaller than littermates. Also, reduced production of aqueous tears result in a tacky mucoid or mucopurulent ocular discharge and ulceration of the cornea in severe cases. Disease management is difficult.
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 mainly affects the skin.
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: Blood EDTA, Blood Heparin, Swab, Tissue, 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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