Background

Neuronal ceroid lipofuscinosis (NCL) is the generic term for neurodegenerative diseases that are based on an excessive accumulation of lipopigments (lipofuscin) in the tissue. These are waxy waste products of cell metabolism that are deposited in the skin, muscles, nerve cells, the retina and many other tissues. The associated damage to the retina can lead to blindness, while the storage of ceroid lipofuscin in nerve cells affects their function and causes a progressive degeneration of the nervous system. In Tibetan terriers, a late onset lethal form of NCL could be traced back to a mutation in the ATP13A2 gene.

Test specific information

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Age

‘Late onset’ – This phrase indicates, that the symptoms of the disease can be detected at a later ages. ‘Late onset’ is the opposite of ‘early onset’, in which symptoms may be present at younger ages. The phrases are used because the mutation causing ´late onset´ symptoms may be different compared to the mutations causing ´early onset´ symptoms.

Throughput

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: Tibetian Terrier. 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

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