Test Detail

Multi-disease genetic panel for the Cairn Terrier that brings together four molecular tests for classic hereditary diseases of the breed: pyruvate kinase deficiency (PK), globoid cell leukodystrophy (Krabbe disease), macrothrombocytopenia (MTC) and craniomandibular osteopathy (CMO). All four have a characterised molecular basis and their own pattern of inheritance. The panel complements haematological, neurological and orthopaedic monitoring in breeding selection.

Applicable breed: Cairn Terrier. TUBB1-related MTC has been described in the Cairn and Norfolk Terrier (and in the Cavalier KC with another variant); CMO in the Cairn, Scottish and West Highland White Terrier. Carrier frequencies in the breeding population are not published systematically (limited data); MTC is relatively common in Cairn and Norfolk lines.

- Genotype breeding animals before mating; the panel covers four conditions in a single sample\n- PK and Krabbe (recessive): do not cross carrier×carrier (25 % affected homozygotes); carrier×clear does not produce affected animals and offspring intended for breeding must be tested\n- MTC: as it does not cause relevant haemorrhage, it does not require breeding exclusion; inform the veterinarian to avoid erroneous diagnoses of thrombocytopenia\n- CMO (dominant with incomplete penetrance): avoid crossing two carriers; affected animals must not be bred\n- After a confirmed clinical case, do not repeat the parental cross and communicate the status to the buyer

PK is confirmed by erythrocyte enzymology and molecular testing; the condition must be differentiated from other haemolytic anaemias (immune, parasitic). Krabbe is confirmed by enzymology (GALC) in leukocytes and molecular study; the differential diagnosis includes other leukodystrophies and neuroaxonal dystrophies. MTC must be distinguished from pseudothrombocytopenia due to EDTA-dependent aggregates — repeat the smear in citrate. CMO is self-limiting at maturity but may require intense analgesia during the active phase; differentiate from osteomyelitis and mandibular neoplasia.

1. Whitney KM et al. The molecular basis of canine pyruvate kinase deficiency. Exp Hematol. 1994;22(9):866-874. PMID: 7520391.
2. Skelly BJ et al. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res. 1999;60(9):1169-1172. PMID: 10490091.
3. Victoria T et al. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics. 1996;33(3):457-462. PMID: 8661004.
4. Wenger DA et al. Globoid cell leukodystrophy in cairn and West Highland white terriers. J Hered. 1999;90(1):138-142. PMID: 9987921.
5. Gelain ME et al. A novel point mutation in the β1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers. Vet Clin Pathol. 2014;43(3):317-321. PMID: 25060661.
6. Hytönen MK et al. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet. 2016;12(5):e1006037. PMID: 27187611.
7. OMIA:000844-9615 (PK), OMIA:000578-9615 (Krabbe), OMIA:002434-9615 (MTC/TUBB1), OMIA:002244-9615 (CMO/SLC37A2).