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H448

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

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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

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 Eskimo Spitz, 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.

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).

Additional information

References

Pubmed ID: 17656327

Omia ID: 2433

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

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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