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Dog DNA testing illustration

Chondrodysplasia (Dwarfism)

Code: H356

74,72 €

Sample details

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

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Short description

Disproportionate Short-Limbed Chondrodysplasia is a developmental disorder of the skeleton that results in disproportionate dwarfism.

General information

Disproportionate Short-Limbed Chondrodysplasia is a developmental disorder of the skeleton that results in disproportionate dwarfism. The specific variant of the disorder analysed in this test is found in the Karelian Bear Dog and the Norwegian Elkhound Grey. It is caused by a recessive mutation to the gene ITGA10.

Specifications

Breeds

Chinook, Norwegian Elkhound (Grey), Karelian Bear Dog

Gene

ITGA10

Chromosome

17

Mutation

c.2083C>T

Organ

Skeletal system

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Clinical features

Dogs affected with chondrodysplasia suffer from disproportionate short stature dwarfism of varying severity. 

Radiographic changes included flaring and increased width of the distal metaphyses of the radius and ulna, delayed ossification of the cuboid bones of the carpus, and reduction in length of the vertebral bodies.

References

Pubmed ID: 24086591

Year published: 2013

Omia ID: 1886

Omia variant ID:

Turnaround information

  • 15 working days