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H379 Polyneuropathy 3 (LPN1)

Background

Heritable polyneuropathies are a heterogenous group of diseases which affect the peripheral nervous system. In the Leonberger and Saint Bernards breeds, the age-of-onset of clinical signs can vary from <1 year up to 11 years of age. Dogs with juvenile-onset disorder typically have a more severe and rapidly progressing course of disease. This suggests the existence of at least two distinct polyneuropathies in the breeds. A likely causative mutation for the juvenile onset form of the disease, termed LPN1, was found in the ARHGEF10 gene. This gene is involved in neuronal growth and axonal migration. Dogs homozygous for the mutation typically show onset of clinical signs before four years of age.

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: Leonberger, Saint Bernard. 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

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Dog

Polyneuropathy 3 (LPN1)

Code H379
€ 47,80 (incl. 21% VAT)
€ 39,50 (excl. VAT)
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