LIST OF GENTC HEALTH TESTS
VWD1 – Von Willebrand disease (vWD) is a genetic disorder that prevents normal blood clotting and can cause extended bleeding following injury. The disorder results from a deficiency or lack of sufficient von Willebrand factor (vWf) which functions as a binding protein during blood clotting. Three types of vWD have been identified in dogs to date and are known as vWD type 1, 2 and 3. Within these three types there are five different genetic mutations that are currently known that lead to canine vWD.
Von Willebrand’s disease type 1 (VWD1) results in reduction in normal levels of vWf to approximately 5-10% of normal. Since some vWf is produced in dogs homozygous for the VWD1 mutation, this form of the disorder is considered to be less serious than type 2 and 3. The mutation (G>A substitution) has variable penetrance and is recessive requiring two copies of the mutation in affected dogs. Typical symptoms of the disease encompass excessive or abnormal bleeding following injury or the presence of blood in various bodily secretions (urine, feces, etc.).
DM – Degenerative Myelopathy (DM) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 8 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. The affected dog will wobble when walking, knuckle over or drag the feet. This can first occur in one hind limb and then affect the other. As the disease progresses, the limbs become weak and the dog begins to buckle and has difficulty standing. The weakness gets progressively worse until the dog is unable to walk. The clinical course can range from 6 months to 1 year before dogs become paraplegic. If signs progress for a longer period of time, loss of urinary and fecal continence may occur and eventually weakness will develop in the front limbs. Another key feature of DM is that it is not a painful disease. Although any dog can be tested for DM, it is possible that the genetic background that predominates in some breeds prevents the development of symptoms even in dogs testing affected (at risk). At this time the required evidence of association between the genetic mutation and actual spinal cord evaluations has only been proven in the breeds listed.
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-cone degeneration (PRA-PRCD) is one specific type of PRA that affects many dog breeds. It is an inherited eye disease with late onset of symptoms that are due to degeneration of both rod and cone cells of the retina. These cells are important for vision in dim and bright light. Most dogs begin to show symptoms of the disease at approximately 3-5 years of age that manifests as difficulty seeing at night (night blindness) and loss of peripheral vision. Although rate of onset and disease progression can vary by breed, PRA-PRCD typically results in eventual loss of sight and complete blindness in affected dogs. It is important to note that other inherited eye disorders can display similar symptoms to PRA-PRCD.
NE – Neonatal encephalopathy (NE) or Neonatal encephalopathy with seizures (NEwS) is a recessive developmental brain disease. Affected pups exhibit extreme weakness, and those that survive the first week generally develop progressively worse ataxia, or inability to move properly. This is often accompanied by severe seizures. None have survived to 7 weeks of age.
EIC – Exercise Induced Collapse (EIC) is a canine genetic disorder that leads to loss of muscle control following periods of extreme exercise. Episodes generally occur after 5-25 minutes of excessive activity that can include actively running for extended periods of time. Episode severity ranges between different dogs and often begins with a form of rocking followed by weakening of the hind limbs and eventual collapse. Attacks are typically brief (less than 20 minutes) and dogs tend to recover. In a limited number of cases, episodes can be fatal. Affected dogs begin to show symptoms from a couple of months to 3 years of age and are more susceptible at an age when more intensive training begins. It is important for owners of dogs affected with EIC to be familiar with activities that may trigger an episode.