Irish Soft-Coated Wheaten Terrier Pack: Degenerative Myelopathy (DM exon 2), Hyperuricosuria (HUU/SLC), Microphthalmia (RBP4), Paroxysmal Dyskinesia (PxD), Protein-Losing Nephropathy (PLN)
153,54 € VAT incl.
Panel multienfermedad para el Irish soft-coated wheaten terrier que agrupa cinco pruebas moleculares: mielopatía degenerativa (SOD1, exón 2), hiperuricosuria (SLC2A9), microftalmia congénita con coloboma (RBP4), disquinesia paroxística (PIGN) y nefropatía perdedora de proteínas (PLN, haplotipo de riesgo NPHS1/KIRREL2). Combina afecciones neurológicas, neuromusculares, oculares, urinarias y renales. La hiperuricosuria por SLC2A9 es una variante pan-racial sin documentación específica en el soft-coated wheaten terrier.
Diseases included in this pack
Hyperuricosuria (SLC) (Autosomal recessive)
Hyperuricosuria is a defect of renal uric acid transport caused by a variant of the SLC2A9 gene, historically described as G616T (p.Cys188Phe) and also noted as Cys181Phe depending on the reference transcript. It increases urinary urate excretion and the risk of urate uroliths. The Dalmatian is the paradigmatic breed.
Microphthalmia (RBP4) (Autosomal recessive with maternal effect: it is only expressed if both the mother and the puppy are homozygous (Kaukonen et al. 2018))
Congenital ocular disease of the Irish soft-coated wheaten terrier caused by a variant in the RBP4 gene, which encodes retinol-binding protein 4, involved in vitamin A transport during embryonic development. The alteration produces microphthalmia (small eye) with congenital retinal folds and dysplasia. It is an iden…
Paroxysmal Dyskinesia (PxD) (Autosomal recessive)
Paroxysmal movement disorder of the Soft Coated Wheaten Terrier, phenotypically close to human paroxysmal non-kinesigenic dyskinesia (PNKD). The episodes combine hyperkinesia and dystonia lasting from minutes to several hours, with preserved consciousness, not induced by intense exercise and sometimes triggered by e…
Protein-Losing Nephropathy (PLN) (Polygenic/complex, associated with a risk haplotype on CFA1; the risk is greatest in homozygotes. Incomplete penetrance, modulated by environmental factors.)
Hereditary glomerular nephropathy with breed predisposition, characterised by persistent proteinuria and hypoalbuminemia progressing to chronic kidney failure. It appears in the Irish Soft Coated Wheaten Terrier (SCWT) and, with much more limited molecular evidence, in the Airedale Terrier. In the SCWT, a risk haplo…
Canine Degenerative Myelopathy exon 2 (All Breeds) (Autosomal recessive with age-dependent and incomplete penetrance)
Neurodegenerative disease of the spinal cord, the canine equivalent of human amyotrophic lateral sclerosis (ALS) due to SOD1 mutations. The classic variant (exon 2 of the SOD1 gene, described in 'all breeds') produces a dysfunctional superoxide dismutase 1 and degeneration of the long spinal tracts, with progressive…
Frequently asked questions
What does this pack include?
It includes 5 hereditary disease tests: Hyperuricosuria (SLC), Microphthalmia (RBP4), Paroxysmal Dyskinesia (PxD), Protein-Losing Nephropathy (PLN)…. 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.
