Hereditary Cataract (HC) - HSF4 H809

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H809 Hereditary Cataract (HC) - HSF4

Background

Hereditary Cataract (HC) is frequently described as a ‘Grey Star’. HC is one of the common reasons for blindness in dogs. Symptoms may already appear at young ages, while the progressive disease becomes worse leading to complete blindness later in life. The only available cure currently is surgery.

Research has discovered a mutation in the HSF4 gene, which has been described in scientific literature as the causative mutation for HC.

Test specific information

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

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 15 working days. A longer delivery time applies to tests carried out by a Partner Lab.

Location of disease or trait

This disease mainly affects vision, and may result in blindness.

Breed dependence

This DNA test is available for the following breeds: Australian Shepherd, Miniature Pinscher, Bull Terrier, French Bulldog.

Sample type

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

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 also 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 also become ill.

Inheritance

This genetic factor is inherited in an autosomal, dominant, mode. This means, that the individual can be free of the mutation (homozygote normal), affected (homozygous affected) or carrier (heterozygous affected). Both carriers and affected individuals will show symptoms of the mutation.