Cairn Terrier Pack: Pyruvate Kinase Deficiency (PK), Globoid Cell Leukodystrophy (Krabbe Disease), Macrothrombocytopenia (MTC), Craniomandibular Osteopathy (CMO)

Panel genético multienfermedad para el Cairn terrier que reúne cuatro pruebas moleculares de enfermedades hereditarias clásicas de la raza: deficiencia de piruvato quinasa (PK), leucodistrofia de células globoides (enfermedad de Krabbe), macrotrombocitopenia (MTC) y osteopatía craneomandibular (CMO). Las cuatro tienen base molecular caracterizada y patrón de herencia propio. El panel es complementario del seguimiento hemático, neurológico y ortopédico en la selección reproductiva.

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Diseases included in this pack

Globoid Cell Leukodystrophy (Autosomal recessive)

Lysosomal storage disorder due to galactocerebrosidase (GALC) deficiency that accumulates psychosine and causes demyelination of the central and peripheral nervous system. In dogs, distinct GALC mutations are recognised in the Cairn Terrier and West Highland White Terrier (shared) and in the Irish Setter (independen…

Craniomandibular Osteopathy (CMO) - Cairn Terrier, Scottish Terrier and West Highland White Terrier (Autosomal dominant with incomplete penetrance. Affected heterozygotes and homozygotes without clinical signs have been described, so the genotype alone does not predict the phenotype.)

Proliferative bone disease of the mandible and the temporomandibular region that affects terrier breeds (Cairn, Scottish and West Highland white terrier). It presents with painful inflammation and difficulty eating, typically intermittently and self-limiting. It is caused by a splicing variant in SLC37A2 and shows a…

Macrothrombocytopenia (MTC) (Autosomal recessive in the Cavalier King Charles spaniel (asymptomatic idiopathic thrombocytopenia); in the Cairn and Norfolk terrier the inheritance of TUBB1-associated macrothrombocytopenia is not fully established.)

Hereditary thrombopathy characterised by giant platelets (macrothrombocytes) and moderate thrombocytopenia, caused by variants of the TUBB1 gene (β1-tubulin), a component of the platelet microtubule ring. The alteration prevents correct fragmentation of megakaryocytes and gives rise to large, few platelets. Platelet…

PK Pyruvate Kinase Deficiency in Dogs (Autosomal recessive (OMIA:000844-9615).)

Molecular test for pyruvate kinase deficiency (PK Def), an autosomal recessive hereditary erythroenzymopathy caused by PK deficiency in the erythrocyte. Red blood cell half-life is shortened and it produces chronic regenerative hemolytic anemia, intermittent weakness, hepatosplenomegaly in the first year and, in adv…

Frequently asked questions

What does this pack include?

It includes 4 hereditary disease tests: Globoid Cell Leukodystrophy, Craniomandibular Osteopathy (CMO) - Cairn Terrier, Scottish Terrier and West Highland White Terrier, Macrothrombocytopenia (MTC), PK Pyruvate Kinase Deficiency in Dogs. All are analysed in our laboratory.

What do the results mean?

The report shows the genotype and inheritance pattern of each variant. It is a breeding-decision tool: it guides which crosses to avoid, it does not guarantee the absence of disease.

How is the sample taken?

Buccal swab or 0.5–1 ml EDTA blood. The kit ships free to Spain, the EU and the UK.