A number of tests are available for the Beagle. Two or more of these tests purchased as part of this bundle will be discounted.
- Chondrodysplasia (CDPA) associated with the FGF4 -18 retrogene insertion
- Chondrodystrophy (CDDY) with risk of IVDD associated with the FGF4-12 retrogene insertion.
- Coagulation Factor VII Deficiency associated with the F7 gene
- Degenerative Myelopathy associated with the SOD1 gene
- Imerslund-Gräsbeck Syndrome associated with the CUBN gene
- Musladin-Lueke Syndrome associated with the ADAMTSL2 gene
- Neonatal Cerebellar Cortical Degeneration (NCCD) associated with the SPTBN2 gene
- Progressive Retinal Atrophy associated with the CORD1 gene
Chondrodysplasia (CDPA) is shortened long bones, resulting in dogs with short legs.
A partial copy of the FGF4 gene has been inserted (FGF4-18, a retrogene insertion) on chromosome 18 and is associated with CDPA. Evidence that suggests that any dog with one or two copies of FGF4-18 will have short legs. Unlike CDDY, CDPA is not associated with any disease.
Chondrodystrophy (CDDY) with risk of IVDD
Chondrodystrophy (CDDY) in dogs is defined by dysplastic (abnormal), shorted long bones (short legs) and premature degeneration and calcification of intervertebral discs. Chondrodystrophic breeds are prone to a type of disc degeneration called chondroid metaplasia, where the discs become hardened and less able to flex with movement and therefore more prone to bulging or rupture i.e. Intervertebral Disk Disease (IVDD). The calcified inner disc material also puts pressure on the spinal cord, causing pain and damage to the nerves running through the spinal cord. Dogs may suffer from severe pain, inability to urinate or defecate, paralysis and even death. Many affected dogs are treated by surgically removing the prolapsed disc.
A partial copy of the FGF4 gene has been inserted (FGF4-12, a retrogene insertion) on chromosome 12 and is associated with CDDY. Evidence that suggests that any dog with one or two copies of FGF4-12 will be affected with CDDY, will have short legs and will be predisposed to IVDD. However, not all dogs with FGF4-12 will go on to develop IVDD.
Coagulation Factor VII Deficiency
Coagulation Factor VII Deficiency is an inherited blood clotting disorder. Factor VII (F7) is a protein essential for blood clotting. A deficiency causes frequent nosebleeds, excessive bruising and excessive or prolonged bleeding after an injury or surgery. Affected dogs may not show clinical signs until they undergo surgery and excessive bleeding occurs.
Important: Degenerative Myelopathy is a rare disease that presents most commonly in German Shepherd Dogs and Boxers, sporadically in Pembroke Welsh Corgis, Cardigan Welsh Corgis, Bernese Mountain Dogs, Rhodesian Ridgebacks, Borzoi and Chesapeake Bay Retrievers. It is rarely diagnosed in other breeds or mixed-breed dogs. DM is considered genetically complex and will have more than one contributing genetic variant. The variant targeted by this test is widespread and found in more than 120 breeds. However, association of the variant with the disease has only been shown in very few breeds and should never be used to inform breeding decisions, except where close relatives have been clinically diagnosed.
Canine degenerative myelopathy (previously also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. Most dogs are at least 8 years old before clinical become apparent. DM usually starts with a muscle weakness, loss of muscle and loss of coordination (ataxia) in the hind limbs. Progression is generally quote slow, but dogs will eventually be crippled within approximately 3 years of the onset of disease.
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.
Musladin-Lueke Syndrome (MLS) is an inherited disorder in which dogs have increased amounts of connective tissue in their joints and skin. Clinical signs are usually obvious from birth. Signs include stiff, sometimes contracted joints that cause dogs to walk upright and often on their tip-toes, giving them a “ballerina walk”. Affected dogs are smaller than littermates with creased ears and thick, tight skin. Other features of this disorder include short outer toes, broad flat foreheads with wide-set slanted eyes and high-set ears. Dogs may also exhibit a failure to thrive, have seizures or experience “phantom pains”. The disease progresses for the first year of life, and then clinical signs stabilise. Affected dogs typically have a normal lifespan, but often develop arthritis.
Neonatal Cerebellar Cortical Degeneration
Cerebellar cortical degeneration, also known as cerebellar abiotrophy, is a disease characterised by clinical signs of cerebellar dysfunction, such as ataxia-dysmetria, broad based stance, loss of balance and intentional tremors. Affected puppies start showing clinical signs around 3 weeks of age. They are slower and less coordinated than unaffected puppies, falling more often and unable to walk in a correct manner. Signs include tremor, ataxia (inability to coordinate the movement of muscles) and spastic paralysis.
Progressive Retinal Atrophy (CORD1)
Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
In most knowns forms of PRA the rod cells of the retina degenerate first, resulting in a loss of dim light vision initially. In this specific form of PRA the cone cells of the retina degenerate first, followed by the rod cells (cone rod dystrophy), so dogs affected with CORD1 do not develop night blindless first. As with all dogs suffering from PRA, there is no cure. Dogs generally adapt quite well to blindness – especially when it develops gradually – as long as their surroundings remain familiar (e.g. furniture does not get rearranged, they do not move house etc).
The age of onset of CORD1 is highly variable. Dogs the are also homozygous for the MAP9 modifier mutation will develop the disease from a young age (< 3 years old). On the other hand, dogs that are homozygous for the CORD1-RPGRIP1 variant but not the MAP9 variant may develop the disease later in life (> 6 years old).