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H625 Congenital Cornification Disorder

Background

Genodermatoses are hereditary skin diseases which are caused by gene mutations. X-linked dominant and semi-dominant genodermatoses show a characteristic skin patterning in heterozygous females, which is due to the random X-inactivation. This results in a pattern of affected and healthy skin regions. Investigation of a Labrador Retriever, showing such characteristic skin lesions lead to the identification of a large deletion in the NSDHL gene.

Test specific information

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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 10 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 is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.

Breed dependence

This DNA test is available for the following breeds: Labrador Retriever. Additional information is available in the Frequently Asked Questions (FAQ).

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Swab, Tissue. Please contact Dr. Van Haeringen Laboratorium 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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Dog

Congenital Cornification Disorder

Code H625
€ 47,80 (incl. 21% VAT)
€ 39,50 (excl. VAT)
Quantity