Dr. van Haeringen Laboratorium B.V.

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H430 Osteogenesis imperfecta

Background

Osteogenesis Imperfecta are usually caused by a mutation in genes encoding collagen. Incomplete collagen results in various bone abnormalities in including brittle bone structure.

Test specific information

For this test we accept only the materials: Blood EDTA and Blood Heparin.

Age

The disease may show itself on different ages, in which it cannot be estimated when the first symptoms may show themselves. Differences may exist between littermates, and between breeds.

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 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 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 20 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: Beagle. 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. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

Result

This genetic factor was detected as a heterozygous mutation in a severely affected proband which indicates a dominant mode of inheritance. This is in agreement with the homologous human variant of Osteogenesis imperfecta, where in the vast majority of instances, the phenotype results from heterozygousity for mutations in one of the genes that encode chains of type I collagen. However, as the number of cases analysed in dogs is currently low, this conclusion contains a certain degree of uncertainty.

Inheritance

This genetic factor was detected as a heterozygous mutation in a severely affected proband which indicates a dominant mode of inheritance. This is in agreement with the homologous human variant of Osteogenesis imperfecta, where in the vast majority of instances, the phenotype results from heterozygousity for mutations in one of the genes that encode chains of type I collagen. However, as the number of cases analysed in dogs is currently low, this conclusion contains a certain degree of uncertainty.

Severity of Disease

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Code H430

Osteogenesis imperfecta

€ 50,19 (Incl. 21% VAT)
€ 41,48 (Excl. VAT)
Quantity