Test Detail

Multi-disease panel for the Irish Setter (red and white) that groups four molecular tests: rcd1 progressive retinal atrophy (rcd1-PRA), rcd4 progressive retinal atrophy (rcd4-PRA), canine leukocyte adhesion deficiency (CLAD) and globoid cell leukodystrophy (Krabbe disease). It combines ocular, immunological and neurodegenerative conditions.

Irish Setter and red and white Irish Setter. CLAD: carrier frequencies around 5 % in the USA (Irish Setter), ~7.6 % in Australia (Kijas 1999) and up to ~13 % in the red and white Irish Setter in the USA (Foureman 2002). rcd1-PRA: classic form of the Irish Setter (OMIA000882-9615), reduced after the use of the molecular test (current prevalence with limited data); no specific publication is recorded in the red and white Irish Setter. Krabbe (GALC) and rcd4-PRA (C2orf71): documented in the Irish Setter; no specific publication is recorded for the red and white Irish Setter (limited data).

- Genotype breeding animals before mating; the panel covers four conditions in a single sample\n- For all four recessive conditions: do not mate two carriers — 25% risk of affected homozygotes; carrier×clear is safe for offspring intended for breeding if tested\n- CLAD and Krabbe are lethal/devastating in homozygotes: absolute priority in avoiding carrier×carrier matings\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer

Verify the exact panel offered by each laboratory. Annual ocular examination (ECVO) complementary. CLAD is suspected in puppies with recurrent infections and leukocytosis; it is confirmed by cytometry (CD18) and molecular test. Krabbe is suspected from progressive neurological signs in young animals; diagnosis by GALC activity in leukocytes and molecular test. rcd1-PRA is early-onset and is seen in the puppy/young dog.

1. Suber ML et al. (1993). Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci USA 90:3968-3972. PMID: 8387203
2. Clements PJ et al. (1993). Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE beta) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr Eye Res 12:861-866. PMID: 8261797
3. Aguirre GD et al. (1999). Frequency of the codon 807 mutation in the cGMP phosphodiesterase beta-subunit gene in Irish setters and other dog breeds with hereditary retinal degeneration. J Hered 90:143-147. PMID: 9987922
4. Downs LM et al. (2013). Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet. PMID: 22686255
5. Kijas JM et al. (1999). A missense mutation in the beta-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency. Genomics. PMID: 10512685
6. Foureman P et al. (2002). Canine leukocyte adhesion deficiency: presence of the Cys36Ser beta-2 integrin mutation in an affected US Irish Setter cross-breed dog and in US Irish Red and White Setters. J Vet Intern Med. PMID: 12322699
7. Victoria T et al. (1996). Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics. PMID: 8661004
8. Wenger DA et al. (1999). Globoid cell leukodystrophy in cairn and West Highland white terriers. J Hered. PMID: 9987921
9. McGraw RA, Carmichael KP (2006). Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J. PMID: 16490723
10. Wenger DA et al. (2021). Advances in the diagnosis and treatment of Krabbe disease. Int J Neonatal Screen. PMID: 34449528
OMIA000882-9615 / OMIA001575-9615 / OMIA000595-9615 / OMIA000578-9615.