R850 Citrullinaemia

Background

Calves died or were killed within 1 week of birth because of progressive central nervous disease in which the only consistent lesion was cerebral oedema. The cause was citrullinaemia, resulting from a dysfunction of the urea cycle enzyme arginosuccinate synthetase.

Test specific information

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Age

The genetic factor is continuously present, and will always be visible.

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 leads to a loss of brain function.

Breed dependence

For this test samples from all breeds are accepted.

Sample type

For this DNA test we accept the following materials: Hair, Semen, Blood EDTA, Blood Heparin, 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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Code R850

Citrullinaemia

Test variant