Australian Shepherd and Miniature American Shepherd Pack: Collie Eye Anomaly (CEA), Progressive Retinal Atrophy (prcd-PRA), Brachyuria, Hereditary Cataract (HSF4), Hyperuricosuria (HUU/SLC), Neuronal Ceroid Lipofuscinosis (NCL), Degenerative Myelopathy (DM
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Panel multienfermedad dirigido al Pastor australiano y al Pastor americano miniatura que agrupa ocho pruebas moleculares de afecciones hereditarias descritas en estas razas: anomalía ocular del collie (CEA), atrofia progresiva de retina prcd-PRA, braquiuria (cola corta natural), catarata hereditaria ligada a HSF4, hiperuricosuria (HUU), lipofuscinosis neuronal ceroide (NCL), mielopatía degenerativa (DM exón 2) y defecto MDR-1 con sensibilidad a la ivermectina. Cada prueba informa del estatus libre/portador/afecto para la variante correspondiente y permite planificar cruces evitando animales enfermos o sensibles a fármacos. El panel no sustituye al examen ocular ni al seguimiento clínico: varias afecciones son tardías o de penetrancia variable, y la prueba molecular es solo una pieza del manejo reproductivo.
Diseases included in this pack
Brachyuria, Genetic Test (Autosomal dominant with embryonic lethality in homozygosity (T/T not viable).)
Hereditary trait (not a disease) that determines the natural short tail through a mutation in the T gene (brachyury). The short tail is a morphological character; the health interest lies in its inheritance: T/T homozygotes are not viable (embryonic lethality), so mating two short-tailed dogs reduces litter size. It…
Hereditary Cataract (HSF4) (Recessive in the Staffordshire Bull Terrier and Boston Terrier; dominant/co-dominant in the Australian Shepherd (OMIA:001758-9615).)
Hereditary cataract associated with mutations in the HSF4 gene in three breeds: Staffordshire Bull Terrier, Boston Terrier and Australian Shepherd. It causes bilateral lens opacity, often of juvenile onset, progressing to blindness. The mutation behaves recessively in the Staffordshire Bull Terrier and Boston Terrie…
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.
Collie Eye Anomaly (CEA, Without Certificate) (Autosomal recessive (OMIA:000218-9615). Homozygotes for the risk allele show the anomaly to a variable degree; heterozygotes are carriers.)
Collie eye anomaly (CEA) is an inherited disorder of ocular development that mainly affects herding breeds with Collie ancestry (Rough and Smooth Collie, Border Collie, Shetland Sheepdog, Australian Shepherd). It is associated with a deletion in the NHEJ1 gene on chromosome 37 (risk allele linked to the locus in sev…
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…
Neuronal Ceroid Lipofuscinosis 6 (NCL6) Australian Shepherd (Autosomal recessive)
Neuronal ceroid lipofuscinosis 6 (NCL6) is an early-onset lysosomal storage disease caused by biallelic variants in the CLN6 gene. In the Australian Shepherd it produces progressive visual deficit leading to blindness, together with cognitive and motor degeneration. It is inherited in an autosomal recessive manner a…
Canine MDR1, Genetic Defect (Ivermectin and Other Drug Sensitivity) (Autosomal recessive with a dose effect (heterozygotes show intermediate sensitivity at high doses))
Loss-of-function mutation in the ABCB1 gene (formerly MDR1) that encodes P-glycoprotein, a drug efflux pump present in the blood-brain barrier. Without this pump, certain drugs (ivermectin and other endectocides, loperamide, some chemotherapeutic agents such as doxorubicin/vincristine and certain anaesthetics) accum…
Canine Progressive Retinal Atrophy (prcd-PRA) (Autosomal recessive)
Inherited degeneration of the retinal photoreceptors. It begins by affecting the rods (night blindness, difficulty in low light) and progresses toward total vision loss in the medium to long term. It is the most common form of progressive retinal atrophy in dogs and is painless, so it is usually detected late, when…
Frequently asked questions
What does this pack include?
It includes 8 hereditary disease tests: Brachyuria, Genetic Test, Hereditary Cataract (HSF4), Hyperuricosuria (SLC), Collie Eye Anomaly (CEA, Without Certificate)…. 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.
