Border Collie Genetic Pack

Tests included in this pack (8)

• Dental Hypomineralization (Raine syndrome) Border Collie
• Collie Eye Anomaly (CEA, without Optigen certificate)
• Glaucoma and Goniodysgenesis (GG) Border Collie
• Canine MDR1, genetic defect (sensitivity to ivermectin and other drugs)
• Imerslund-Gräsbeck Syndrome (IGS) (Selective Cobalamin Malabsorption) Border Collie and New Zealand Heading Dog
• Trapped Neutrophil Syndrome (TNS): Border Collie, Huntaway and New Zealand Heading Dog
• Sensory Neuropathy (SN) Border Collie
• Cerebellar Ataxia of American Staffordshire Terrier

Each test includes the complete analysis and detailed report. Click on the test to view its details.

Diseases included in this pack

Dental Hypomineralization (Raine Syndrome) Border Collie (Autosomal recessive (OMIA:002015-9615). In the family studied, the homozygous variant segregated completely with the phenotype and obligate carriers were heterozygous.)

Dental hypomineralisation of the Border Collie is a hereditary disorder of dental development, the canine model of human Raine syndrome. It produces enamel and dentine deficient in mineralisation, with severe dental wear, pulp exposure, pulpitis and the need for extractions. It affects both deciduous and permanent d…

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…

Glaucoma and Goniodysgenesis (GG) Border Collie (Autosomal recessive with variable penetrance (Arg138Gln homozygotes are at risk, but not all develop glaucoma).)

Border Collie Goniodysgenesis (GD) is a developmental anomaly of the iridocorneal angle that predisposes to primary glaucoma. It is one of the most important causes of blindness in the Border Collie. Goniodysgenesis refers to abnormal development of the eye's drainage angle, where the aqueous humor drains from the 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…

Imerslund-Gräsbeck Syndrome (IGS) (Selective Cobalamin Malabsorption) Border Collie and New Zealand Heading Dog (Autosomal recessive)

Imerslund-Gräsbeck Syndrome (IGS) Border Collie is a disorder of selective cobalamin (vitamin B12) malabsorption caused by a deficiency in the protein cubamolin, which is necessary for intestinal absorption of vitamin B12.nnCobalamin deficiency produces megaloblastic anaemia, progressive neurological deterioration…

Trapped Neutrophil Syndrome (TNS): Border Collie, Huntaway and New Zealand Heading Dog (Autosomal recessive (monogenic disease; both parents of an affected animal are obligate carriers).)

Trapped neutrophil syndrome (TNS) is an inherited haematological disease described in the Border Collie and in the New Zealand working breeds Huntaway and New Zealand Heading Dog. Neutrophils mature in the bone marrow but cannot leave it (they remain 'trapped'), so the blood shows neutropenia while the marrow is hyp…

Cerebellar Ataxia of American Staffordshire Terrier (Autosomal recessive)

Neuronal Ceroid Lipofuscinosis type 5 (NCL5) is a progressive lysosomal neurodegenerative disease affecting Australian Cattle Dogs and Border Collies. It is characterised by abnormal accumulation of lipofuscin (lipid waste pigment) in the neurons of the central and peripheral nervous system.nnThe disease produces…

Frequently asked questions

What does this pack include?

It includes 7 hereditary disease tests: Dental Hypomineralization (Raine Syndrome) Border Collie, Collie Eye Anomaly (CEA, Without Certificate), Glaucoma and Goniodysgenesis (GG) Border Collie, 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.