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Dog DNA testing illustration

P2RY12 Receptor Platelet Disorder

Code: H450

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

The P2RY12 receptor platelet disorder in the Greater Swiss Mountain Dog is a hereditary disease that leaves affected dogs at risk of severe bleeding under surgery or if injured.

General information

The P2RY12 receptor platelet disorder in the Greater Swiss Mountain Dog is a hereditary disease that leaves affected dogs at risk of severe bleeding under surgery or if injured. It is caused by a recessive mutation to the P2RY12 gene, and is described as fairly widespread in the breed.

Specifications

Breeds

Greater Swiss Mountain Dog
Gene

P2RY12
Chromosome

23
Mutation

c.516_518del
Organ

Cardiovascular System
Specimen

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

Autosomal Recessive

Clinical features

Affected dogs appear mostly normal, with no unusual symptoms. However, experiencing trauma, undergoing surgery or treatment with platelet inhibitors can result in excessive and potentially life-threatening bleeding.

References

Pubmed ID: 21554368

Year published: 2011

Omia ID: 1564

Omia variant ID:

Turnaround information

  • 15 working days