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Dog DNA testing illustration

Thrombopathia – American Eskimo Dog

Code: H448

74,72 €

Sample details

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

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Thrombopathia is a group of bleeding disorders caused by defective platelets, which can result in uncontrolled bleeding.

General information

Thrombopathia is a group of bleeding disorders caused by defective platelets, which can result in uncontrolled bleeding. This variant of the disorder, observed in the American Eskimo Dog, is caused by a recessive mutation to the gene RASGRP2 (sometimes called CalDAG-GEFI). Related variants have been observed in the Basset Hound and Landseer.

Specifications

Breeds

American Eskimo dog
Gene

RASGRP2
Chromosome

18
Mutation

c.452dup
Organ

Cardiovascular System
Specimen

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

Autosomal Recessive
Also known as

Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI)

Clinical features

Affected dogs have an increased susceptibility to bleeding or bruising. This can include persistent nosebleeds, bleeding from the gums, excessive bleeding from nails clipped too close, and spontaneous development of hematomas (soft, blood-filled swellings under the skin).

References

Pubmed ID: 17656327

Year published: 2007

Omia ID: 2433

Omia variant ID:

Turnaround information

  • 15 working days