Dr. van Haeringen Laboratorium B.V.

H444 Palmoplantar keratoderma 1 (FNEPPK1)

Background

In the Dogue de Bordeaux breed a hyperkeratosis mainly affecting the footpads was described. Affected dogs show thickening of the footpads, severe keratinous proliferations and fissures which increase the susceptibility to secondary infections. The disorder is inherited as an autosomal recessive trait with onset of symptoms between 10 weeks and 1 year of age. A genetic study identified a complex mutation in the KRT16 gene as cause for the disease. The mutation leads to a truncated protein and impairs normal keratin assembly.

Test specific information

-

Age

The disease may show itself on different ages, in which it cannot be estimated when the first symptoms may show themselves. Differences may exist between littermates, and between breeds.

Turn Around Time

The turn-around-time of a test depends to a large extent on the logistics of sample transportation to the laboratory. After receiving the sample at the test location, you can normally expect the result within 10 working days. A longer delivery time applies to tests carried out by a Partner Lab.

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: Dogue de Bordeaux. 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

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

-

Code H444

Palmoplantar keratoderma 1 (FNEPPK1)

€ 47,80 (Incl. 21% VAT)
€ 39,50 (Excl. VAT)
Quantity