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H431

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth. Defects in the structure of the collagen leads to Osteogenesis Imperfecta.

This variant of OI, found in the Dachshund, is caused by a recessive mutation to the gene SERPINH1.

Clinical features

This disease is characterised by extremely fragile bones and teeth. It is sometimes also accompanied by other complications like blue sclera, hearing loss, dwarfism and discoloured teeth.

Additional information

References

Pubmed ID: 19629171

Omia ID: 1483

How does it work?

1. Select your product(s)

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2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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