Background

In general, impaired hearing with age is normal in dogs with an onset at 8-10 years. Early (E) Adult onset deafnessis (AOD) a hearing disease in Border Collies has an early onset at 3-5 years. EAOD is considered to be problematic, in especially working Border Collies, because hearing slight differences in tones is essential to the function of a working Border Collie. Even moderate hearing loss can already have a major impact on working ability.

The gradual hearing loss is observed at the age of 3-5 years affecting both ears.

We test the following markers:

Test specific information

This test is based on an association study in which multiple DNA variants in close proximity to the usp31 gene on chromosome 6 were discovered that are related to Early Adult Onset Deafness (EAOD) in Border Collies. Each DNA variant is a “risk factor”. PharmaDNA tests only for those variants that have been published with the "highest risk". The test could have potential benefits for breeders whose dogs have deafness somewhere in their pedigree, for assist in making a breeding choice. It is described in the literature that the presence of deafness in the pedigree greatly increases the chances that these risk variants are associated with the causal mutation for EAOD, which has not been discovered yet. In case of a CARRIER/AFFECTED result for the 4 variants, this test indicates that the dog has an increased risk on whether or not to develop EAOD. It is not known how great this increased risk is, it could be entirely possible that your at risk dog is not carrying the causal mutation at all. If your dog's test results come back as CARRIER/AFFECTED, this information could be used to make sure the dog you breed him/her to is CLEAR for the respective variants.

Age

Turnaround time

The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.

The TAT of tests performed at our facilities is normally 15 working days after receipt of the sample at the testing laboratory. For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 25 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 25 working days are therefore an estimate.

PLEASE NOTE
Sometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.

Location of disease or trait

Trait or disease of the sense organs (ears, eyes).

Breed dependence

This DNA test is available for the following breeds: Border Collie.

Sample type

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

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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