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Dog DNA testing illustration

Thrombopathia – Basset Hound

Code: H442

74,72 €

Sample details

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

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Short description

Thrombopathia, sometimes called Platelet Function Disorder, is a group of diseases that affect the platelet cells responsible for blood clotting, resulting in a risk of severe and uncontrolled bleeding.

General information

Thrombopathia, sometimes called Platelet Function Disorder, is a group of diseases that affect the platelet cells responsible for blood clotting, resulting in a risk of severe and uncontrolled bleeding. This variant of the disorder, found in the Basset Hound, is caused by a recessive mutation to the gene RASGRP2. Closely related variants have been observed in the American Eskimo Dog and Landseer.

Specifications

Breeds

Basset Hound
Gene

RASGRP2
Chromosome

18
Mutation

c.509_511del
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 may present with severe and recurrent bleeding from the gums, episodes of lameness, or severe anemia. Blood analysis will confirm dramatically decreased platelet activity.

References

Pubmed ID: 17656327

Year published: 2007

Omia ID: 2433

Omia variant ID:

Turnaround information

  • 15 working days