Shetland Sheepdog Pack: Collie Eye Anomaly (CEA), Progressive Retinal Atrophy (BBS2-PRA), Progressive Retinal Atrophy (CNGA1-PRA), von Willebrand Disease Type 3 (vWD3), Degenerative Myelopathy (DM exon 2), Ivermectin Sensitivity (MDR-1)

Panel multienfermedad dirigido al pastor de Shetland (Sheltie) que agrupa las seis pruebas de sus componentes: anomalía ocular del Collie (CEA, NHEJ1), atrofia progresiva de retina por BBS2, atrofia progresiva de retina por CNGA1, enfermedad de von Willebrand tipo 3 (vWD3, VWF), mielopatía degenerativa (DM, SOD1 exón 2) y defecto MDR-1 (ABCB1, sensibilidad farmacológica). Cada prueba informa del estatus libre/portador/afecto para la variante correspondiente. El panel no sustituye al examen ocular ni al seguimiento hematológico: la vWD3 es una coagulopatía grave y la DM es de penetrancia incompleta.

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Diseases included in this pack

von Willebrand Disease Type 3 (vWD3) (Autosomal recessive)

The most severe form of von Willebrand disease, with virtual absence of von Willebrand factor (vWF) and severe haemorrhagic diathesis. Affected homozygotes present spontaneous bleeding or bleeding after trauma/surgery that can be life-threatening. It is inherited in an autosomal recessive manner through mutations in…

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…

BBS2-PRA (Autosomal recessive)

A form of progressive retinal atrophy in the Shetland Sheepdog caused by a mutation in the BBS2 gene, linked to Bardet-Biedl syndrome. It produces progressive photoreceptor degeneration and gradual vision loss. It may be accompanied by other features of the syndrome in some individuals. It progresses to blindness.

CNGA1-PRA (Autosomal recessive)

Form of progressive retinal atrophy (PRA) of the Shetland Sheepdog associated with a mutation in the CNGA1 gene, which encodes a subunit of the cyclic nucleotide channel involved in phototransduction. It produces photoreceptor degeneration with progression to blindness. The disease is inherited recessively and the g…

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…

Frequently asked questions

What does this pack include?

It includes 6 hereditary disease tests: von Willebrand Disease Type 3 (vWD3), Collie Eye Anomaly (CEA, Without Certificate), Canine Degenerative Myelopathy exon 2 (All Breeds), BBS2-PRA…. 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.