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DNA tests

NEONATAL BANDERA ATAXIA (BNAT)

Neonatal Bandera ataxia (also called Bandera syndrome) is an inherited disease found only in the Coton de Tuléar. This hereditary disease is named after the second Coton puppy diagnosed with the disease and results in affected puppies being unable to coordinate their movements.

 

This is due to a mutation in a glutamate receptor gene that affects neurotransmitter levels, leading to inappropriate brain signals and hindering movement coordination. Affected puppies may be recognized within the first few weeks as having difficulty walking, eating, standing, and eliminating. No known adult cottontails have been affected by neonatal Bandera ataxia.

CANINE MULTIFOCAL RETINOPATHY (CMR2)

The canine multifocal retinopathy mutation causes raised lesions to form on the retina, which changes the appearance of the eye but does not usually affect vision. The lesions may disappear or cause slight bending of the retina. Symptoms of the mutation usually appear when a puppy is just a few months old, and usually do not get worse over time. The CMR genetic test is valuable in identifying the cause of a retinal deformity. Given the accurate genetic diagnosis, the owner can be reassured that this condition will likely result in little or no vision loss due to this condition.

 

Although both CMR1 and CMR2 mutations are found in the same gene, they are breed specific and testing for only one is necessary. The CMR2 mutation is specific to the Coton de Tuléar breed.

CHONDRODYSTROPHY AND RISK OF IVDD (CDDY-IVDD)

These two conditions cause shortening of the legs and are known as chondrodysplasia (CDPA) and chondrodystrophy (CDDY). CDDY is the second mutation that causes leg shortening and, more importantly, can also put a dog at risk for premature degeneration of the intervertebral discs, known as intervertebral disc disease (IVDD).


The intervertebral disc is located between the vertebrae and allows flexibility of the spine. In dogs with the CDDY mutation, premature calcification can lead to disc degeneration in young dogs, resulting in herniation, inflammation, and hemorrhage of the spinal cord. This can ultimately lead to severe pain and neurological dysfunction typical of IVDD.

DEGENERATIVE MYELOPATHY (DM)

Degenerative myelopathy (DM) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset, usually between ages 8 and 14. It begins with a loss of coordination (ataxia) in the hind limbs. The affected dog sways when walking, rolls over or drags its feet.

 

This may first occur in one hind limb and then affect the other. As the disease progresses, the limbs become weak and the dog begins to become deformed and has difficulty standing. The weakness gradually worsens until the dog is unable to walk. The clinical course can last from 6 months to 1 year before the dog becomes paraplegic.
If signs progress over a longer period, loss of urinary and fecal continence may occur and ultimately weakness develops in the forelimbs. Another essential characteristic of MD is that it is not a painful disease. Although any dog can be tested for MD, it is possible that the genetic background that predominates in certain breeds prevents the development of symptoms even in dogs tested as affected (at risk).

HYPERURICOSURIA (HU)

This disease is characterized by the excretion of uric acid leading to the formation of urinary stones (stones) which may then require surgery. If a dog of a breed susceptible to this disease has problems urinating freely, a veterinarian should be consulted immediately.

PRIMARY HYPEROXALURIA (PH)

Primary hyperoxaluria (PH) is a metabolic disorder that affects the Coton de Tuléar dog breed. The disease results from a deficiency in the liver enzymes needed to break down calcium oxalate crystals so they can be eliminated from the dog's body. In the absence of a properly functioning enzyme, the crystals build up in the dog's body, leading to progressive disease.

 

Affected puppies show signs of the disease at 3-4 weeks of age, with the disease eventually leading to kidney failure. Symptoms of acute kidney failure may include loss of appetite, vomiting, lethargy, decreased urine production, abdominal pain, and blood in the urine. Puppies affected by PH rarely survive beyond a few months. This test includes PH1.

PROGRESSIVE CONE AND ROD DEGENERATION (PRA-PRCD)

Progressive retinal atrophy (PRA) is a category of different progressive conditions related to retinal atrophy that can eventually lead to blindness. Progressive rod and cone degeneration (PRA-PRCD) is a specific type of PRA that affects many dog breeds.

 

It is a hereditary eye disease whose symptoms appear late and which is due to the degeneration of the cone and rod cells of the retina. These cells are important for vision in dim or bright light. Most dogs begin to show symptoms of the disease around 3 to 5 years of age, which manifests as difficulty seeing at night (blind blindness) and loss of peripheral vision. Although the rate of onset and progression of the disease can vary by breed, PRA-PRCD typically results in vision loss and complete blindness in affected dogs. It is important to note that other inherited eye diseases may present with similar symptoms to PRA-PRCD

Willebrand disease

Willebrand disease (WD) is an inherited hemorrhagic disease caused by a defect 

genetics of the concentration, structure or function of the Willebrand Factor

A protein involved in primary hemostasis and coagulation mechanisms

Which causes clotting problems, excessive bleeding.

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