Background

Osteochondrodysplasia (OC), also known as Pseudoachondroplastic Dysplasia, is an inherited disease which causes abnormal fetal skeletal maturations. It is a form of skeletal dwarfism.

A causal mutation responsible for the disease was identified in the SLC13A1 gene for the miniature poodle. This gene normally codes a protein that takes care of the transport of minerals inside the developing bone. A mutation in the SLC13A1 gene disrupts the cartilage to bone transition. This causes inappropriate skeletal developments like abducted hind limbs, shortened and bent long bones , enlarged joints, dorsoventral flattening of the rib cage, undershot jaws, and elongated and misshapen paws that resemble clubfoot.

The severe stiffness of the limbs will reduce when the puppy get older. Unfortunately, the dogs’ mobility will remain restricted and most of the times results in arthritis.

Test specific information

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Age

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

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

This disease affects the formation of bone as well as the skeletal development.

Breed dependence

This DNA test is available for the following breeds: Miniature and Toy Poodle.

Sample type

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