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Glanzmann's Thrombasthenia (Great Pyrenees Type)

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Test Overview:

Genetic testing is essential for Great Pyrenees breeding stock to identify carriers and affected dogs. Dogs with two copies of the mutation (affected) should not be bred. Carriers (one copy of mutation) can be bred only to clear (non-carrier) dogs to avoid producing affected puppies. Avoid carrier-to-carrier matings, as this results in a 25% chance of affected offspring. Sharing genetic test results promotes responsible breeding and reduces disease incidence while preserving genetic diversity.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

ITGA2B

Variant Detected:

chr9:19057144-19057157 (canFam3): 14 bp duplication (dup GGTGCCACAGACAT)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the ITGA2B gene will reliably determine if a dog is a genetic carrier of Glanzmann’s thrombasthenia (great Pyrenees type).

Research Citation(s):

Boudreaux MK, Kvam K, Dillon, AR, Bourne C, Scott M, Schwartz KA, Toivio-Kinnucuan M. Type I Glanzmann’s thrombasthenia in a Great Pyrenees dog. Vet Pathol. 1996 Sept; 33(5):503-511. [PubMed: 8885176] Lipscomb DL, Bourne C, Boudreaux MK. Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13. Vet Pathol. 2000 Nov; 37(6):581-8. [PubMed: 11105947]

Associated Breed(s):

Great Pyrenees, Mixed Breed,

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