Bobtail Pack: Hereditary Ataxia (HA), Primary Ciliary Dyskinesia (PCD), Degenerative Myelopathy (DM exon 2), Ivermectin Sensitivity (MDR1)

Panel genético del bobtail (Old English Sheepdog) que agrupa cinco condiciones hereditarias: ataxia hereditaria/ataxia cerebelar juvenil (HA, degeneración de células de Purkinje), colapso inducido por el ejercicio (EIC, parálisis tras esfuerzo intenso), disquinesia ciliar primaria (PCD, defecto de cilios respiratorios con bronconeumonías recurrentes y situs inversus), mielopatía degenerativa (DM, variante del exón 2 de SOD1) y sensibilidad a ivermectina y otros fármacos (MDR1, defecto de la glicoproteína P de barrera hematoencefálica).

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Diseases included in this pack

Primary Ciliary Dyskinesia (PCD) (Autosomal recessive (OMIA:001540-9615 and OMIA:002206-9615).)

Hereditary disorder of the motile cilia that alters mucociliary clearance of the airways, the function of ependymal cilia and, in the male, sperm flagellar motility. It presents with cough and mucopurulent rhinorrhoea from the first weeks of life, recurrent pneumonia and bronchiectasis; in some cases situs inversus…

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…

Hereditary Ataxia (HA) Gordon Setter and Bobtail (Autosomal recessive (OMIA:001913-9615); clinical risk is concentrated in homozygotes)

Hereditary cerebellar ataxia of juvenile to adolescent onset described in the Old English Sheepdog (Bobtail) and Gordon Setter, caused by a variant of the autophagy gene RAB24. It produces progressive cerebellar degeneration with incoordination of gait and balance. It is one of the best molecularly characterized her…

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…

Exercise-Induced Collapse (EIC) (Autosomal recessive (OMIA:001466-9615).)

Exercise-Induced Collapse (EIC) is an inherited neuromuscular disease that mainly affects the Labrador Retriever and other retriever breeds. It is characterised by episodes of muscle weakness and collapse that occur during or immediately after intense exercise and subside within a few minutes, with the dog normal be…

Frequently asked questions

What does this pack include?

It includes 5 hereditary disease tests: Primary Ciliary Dyskinesia (PCD), Canine Degenerative Myelopathy exon 2 (All Breeds), Hereditary Ataxia (HA) Gordon Setter and Bobtail, Canine MDR1, Genetic Defect (Ivermectin and Other Drug Sensitivity)…. 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.