Breeds Affected: Norfolk Terriers, Cairn Terriers

Samples Accepted: Blood, Buccal Swabs

Disease Information: Asymptomatic macrothrombocytopenia is a disorder of platelet formation.

Test Information: This mutation test identifies a single base pair change in exon 1 of the TUBB1 gene. Animals which have two copies of this allele are affected with Asymptomatic macrothrombocytopenia and animals with one copy are clinically-carriers.

Gelain, M.E., Tutino, G.F., Pogliani, E., Bertazzolo, W. :Macrothrombocytopenia in a group of related Norfolk terriers. Vet Rec 167:493-4, 2010. Pubmed reference: 20871084.
DOI: 10.1136/vr.c4782.

Further information is available at the Online Mendelian Inheritance in Animals website.