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Neuroaxonal Dystrophy H428

56,87 €

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Background

Neuroaxonal dystrophy (NAD) is a neurodegenerative pathology of the central and/or peripheral nervous system characterized by local swellings (spheroids) and atrophy of axons. Onset of signs is typically between 6 and 18 months of age and follows a progressive course of cognitive and motor regression and hypotonia.

Test specific information

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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 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 leads to a loss of brain function.

Breed dependence

This DNA test is available for the following breeds: Giant Schnauzer.

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Swab, 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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