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.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
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.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin. Please contact PharmaDNA 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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