A number of tests are available for the Border Collie. Two or more of these tests purchased as part of this bundle will be discounted.
- Imerslund-Gräsbeck Syndrome associated with the CUBN gene
- Sensory Neuropathy associated with the FAM134B gene
- Trapped Neutrophil Syndrome associated with the VPS13B gene
- Neuronal Ceroid Lipofuscinosis associated with the CLN5 gene
- Goniodysgenesis and Glaucoma associated with the OLFML3 gene
- Multi-Drug Resistance associated with the ABCB1 gene
Imerslunf-Gräsbeck Syndrome (IGS) is a genetic disorder in which cobalamin (Vitamin B12) is not absorbed from food in the intestine, resulting in a cobalamin deficiency. Lack of cobalamin leads to changes in the hematopoietic system, such as megaloblastic anemia (fewer red blood cells). Left untreated a chronic deficiency of cobalamin can lead to neurological symptoms due to irreversible damage of the brain and nervous system. Symptoms include anorexia, lethargy and failure to gain weight. Cobalamin malabsorption can be managed by supplementation with regular doses of cobalamin.
Sensory neuropathy Border Collie type is an inherited progressive neurological disorder which affects the Border Collie breed. Generally, neuropathy is a disease of the peripheral nervous system, which is responsible for sensation feeling to the skin and the muscle control. Clinical signs start from between two and seven months of age and include loss of coordination, joint laxity, lack of awareness where the limbs are in space, and inability to perceive pain. Affected dogs often have self-mutilated limbs, which may be due to tingling or pain in their paws, another manifestation of the disorder. Sensory neuropathy is progressive and as there is no treatment or cure, dogs are usually euthanised for welfare reasons.
Trapped Neutrophil Syndrome
Trapped Neutrophil Syndrome is an immune defected known as neutropenia (abnormally low levels of white blood cells). White blood cells are produced by the bone marrow, but they are not released into the bloodstream. Affected dogs are therefore susceptible to illness and repeated infections.
Some affected puppies are smaller than their littermates and suffer from chronic infections and failure to thrive from as early as 6 weeks. For others the first signs of TNS may only be an adverse reaction to immunisation. There is no cure for TNS.
Neuronal Ceroid Lipofuscinosis
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease found in dogs, humans, and other animals. It is characterised by the widespread accumulation of lipopigment in neurovisceral tissue and clinical signs of neurological disease. Onset of clinical signs of this form of NCL in Border collies can be from 15 months, but the age of onset of the disease is variable. Affected dogs develop ataxia and psychological abnormalities, including agitations, aggression, hallucinations, and hyperactivity. The disease is progressive and most dogs will lose the ability to coordinate functions such as house training, walking and eating. There is no treatment or cure, and as a result, affected dogs seldom live beyond 28 months of age.
Goniodysgenesis and Glaucoma
Primary glaucoma results from reduced drainage of the fluid (aqueous humour) that is produced within the eye, resulting in a build-up of intraocular pressure (IOP) which, in turn, damages the optic nerve and leads to pain and blindness. Primary closed angle glaucoma (PCAG) in dogs is associated with a risk factor known as pectinate ligament abnormality (PLA), a form of goniodysgenesis, and affects several breeds of dog, including the Border Collie. PLA is the term given to an abnormality of the drainage angle within the eye and can only be detected by a veterinary ophthalmologist, using a technique called gonioscopy. Although severe PLA (or goniodysgenesis) is a risk factor for PCAG it does not directly cause any clinical signs that the dog or its owner will notice. PCAG, on the other hand, that is associated with severe PLA, is painful and potentially blinding if not treated immediately. The onset of PCAG can be very rapid (overnight) and results in an extremely painful eye that might be red and/or appear cloudy. The pupil will not constrict when a light is shone into it and the affected dog will demonstrate signs of pain, including a squinting or watering eye, being head shy or tilting its head.
In certain breeds a mutation on the ABCB1 gene, which encodes the MDR1 protein (which stands for Multi Drug Resistance 1) can cause animals that carry the mutation to be particularly sensitive to certain drugs. The variant was first detected in a subpopulation of dogs that were highly sensitive to Ivermectin-induced neurotoxicity. The variant on the ABCB1 gene results in the brain being unable to efficiently pump some drugs out, causing a toxic build-up of these drugs in the brain. Dogs subsequently experience and range of symptoms from vomiting and diarrhea to lethargy, seizures, or coma.