Webshop   Animals   Dog   Aberrant Autophagy (LSD)

H627 Aberrant Autophagy (LSD)

Background

Autophagy is an evolutionary conserved intracellular process, which is necessary for a balance between the production of new and the degradation of old cell components. Proteins and organelles are sequestered within double-membrane autophagosomes and delivered to the lysosome for degradation. Several different autophagy related (ATG) proteins are involved in this pathway and dysfunction has been implicated in various deleterious neurodegenerative disorders. In the Lagotto Romagnolo breed, a progressive cerebellar ataxia could be traced back to a mutation in the ATG4D gene.

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.

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: Lagotto Romagnolo (Romagna Water Dog). 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, Tissue, Swab. 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

-

 
Dog

Aberrant Autophagy (LSD)

Code H627
€ 47,80 (incl. 21% VAT)
€ 39,50 (excl. VAT)
Quantity