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Dog DNA testing illustration

Osteochondromatosis

Code: H903

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Osteochondromatosis, alternately known as multiple osteochondromas, hereditary exostoses, cartilaginous exostoses, diapyseal aclasis and deforming chondrodysplasia, is a skeletal disorder that causes the formation of growths on long bones.

General information

Osteochondromatosis, alternately known as multiple osteochondromas, hereditary exostoses, cartilaginous exostoses, diapyseal aclasis and deforming chondrodysplasia, is a skeletal disorder that causes the formation of growths on long bones. This variant of the disorder, found in the American Staffordshire Terrier, is caused by a dominant mutation to the gene EXT2.

Specifications

Breeds

American Staffordshire Terrier
Gene

EXT2
Chromosome

18
Mutation

c.924C>A
Organ

Skeletal system
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Dominant

Clinical features

Affected puppies develop skeletal abnormalities such as lesions of the ribs and vertebrae caused by bone growths, which may potentially lead to paresis (weakened/impaired movement) of the hind legs. Depending on the severity of symptoms, euthanasia might be necessary.

References

Pubmed ID: 29485212

Year published: 2018

Omia ID: 1214

Omia variant ID:

Turnaround information

  • 15 working days