Breeds Affected: Great Pyrenees
Samples Accepted: Blood, Buccal Swab
Disease Information: Glanzmann Thrombasthenia is a bleeding disorder caused by defective platelets. Type I GT is characterized by having less than five percent of the normal number of platelets.
Test Information: This mutation test identifies a 14 base pair insertion in exon 13 of the ITGA2B gene. Animals which have two copies of this allele are affected with GT, and animals with one copy are carriers which appear normal.
Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : Two genetic defects in alpha(IIb) 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 Veterinary Pathology 37:581-588, 2000. Pubmed reference: 11105947.
Further information is available at the Online Mendelian Inheritance in Animals website.