Health Tests
Progressive Retinal Atrophy ( prcd-PRA )
This is an inherited disease that occurs in many dog breeds and also in different forms. The form of progressive rod-cone degeneration (prcd-PRA) is a photoreceptor degeneration in dogs with varying ages of onset. This genetic disorder causes the degeneration of retinal cells in the eye: firstly, rod cells are affected, thus leading to progressive night blindness. Secondly, degeneration of the cone cells results in complete blindness of the dog, even in full light situations during the day.
Age of onset of clinical symptoms is typically in early adolescence or early adulthood. However, the onset of the disease may vary among different dog breeds.
Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on prcd-PRA helps to diagnose a specific disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population
Progressive Retinal Atrophy ( rcd4-PRA ) / LOPRA
Progressive retinal atrophy (PRA) is a major hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated.
One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar. Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic.
The rcd4 PRA is another form of PRA, it is also known as LOPRA (Late Onset PRA) the age of onset of dogs with LOPRA varies from few years of age (2-3 years) up to old age (10-11 years)
Degenerative Myelopathy / Degenerative Radiculomyelopathy ( DM Exon 2 )
Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. As of July 15, 2008, the mutated gene responsible for DM has been found present in 43 breeds including German Shepherds, Boxers, Chesapeake Bay Retrievers, Rhodesian Ridgebacks, and both breeds of Welsh Corgis. The disease is chronic and progressive, and resulting in paralysis.
Von Willebrand Disease Type 1 ( vWD 1 )
Von Willebrand disease (vWD) is probably the most common inherited bleeding disorder in dogs. It is caused by lack of von Willebrand factor which is a protein that plays a key role in the blood clotting process resulting in prolonged bleeding. The disorder occurs in varying degrees of severity ranging from trivial bleeding to excessive life-threatening haemorrhages.
Hyperuricosuria / Urate Stones ( HUU, SLC )
Hyperuricosuria is characterized by elevated levels of uric acid in the urine. This disease predisposes dogs to form stones in their bladders or sometimes kidneys.
Malignant Hyperthermia ( MH )
Malignant hyperthermia (MH) is an inherited disorder of skeletal muscle characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure, that develops on exposure to succinylcholine or volatile anaesthetic agents. Specific interventions, including use of the calcium release channel antagonist dantrolene, are efficacious in reversing signs of the canine syndrome.
Macrothrombocytopenia ( MTC-D )
Macrothrombocytopenia ( MTC ) is inherited as an autosomal dominant trait characterized by low platelet count and the presence of some larger than normal platelets in circulation. Unlike acquired macrothrombocytopenia (thrombocytopenia’s secondary to infectious agents, medications, immune-mediated causes), this form does not respond to treatment.
It is important to note that these dogs may mistakenly be considered to have an underlying disease that results in thrombocytopenia, such as immune-mediated thrombocytopenia, tick-borne infection, or a bone marrow disorder. ( TC ) is inherited as an autosomal dominant trait and results can be Clear (N/N), Affected heterozygous (N / MTC), Affected homozygous (MTC / MTC)
Neonatal encephalopathy (NE / NEWS)
Neonatal encephalopathy with seizures is an autosomal recessive developmental brain disease. Affected puppies exhibit extreme weakness, those that survive the first week of life generally develop progressively worse ataxia and a whole-body tremor. This is often accompanied by severe generalized clonic-tonic seizures. None have survived to 7 weeks of age. ´The mutation that is suggested to be responsible for NEWS in standard poodles can be detected via DNA-testing.
Progressive Retinal Atrophy ( prcd-PRA )
This is an inherited disease that occurs in many dog breeds and also in different forms. The form of progressive rod-cone degeneration (prcd-PRA) is a photoreceptor degeneration in dogs with varying ages of onset. This genetic disorder causes the degeneration of retinal cells in the eye: firstly, rod cells are affected, thus leading to progressive night blindness. Secondly, degeneration of the cone cells results in complete blindness of the dog, even in full light situations during the day.
Age of onset of clinical symptoms is typically in early adolescence or early adulthood. However, the onset of the disease may vary among different dog breeds.
Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on prcd-PRA helps to diagnose a specific disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population
Familial Nephropathy ( FN )
The Familial or Hereditary Nephropathy (FN) is a juvenile-onset fatal kidney disease in English Cocker Spaniels. The renal disease caused by FN invariably is progressive and ultimately fatal. Dogs with FN typically develop chronic renal failure between 6 month and 2 years of age, with eventual and sometimes rapid destruction of both kidneys. The first clinical signs are excessive water consumption, growth rate or loss in weight, reduced appetite, and vomiting.
Acral Mutilation Syndrome ( AMS )
Acral Mutilation Syndrome (AMS) is an inherited sensory neuropathy disorder affecting several sporting breeds. The disease is characterised by insensitivity to pain in the feet ( acral analgesia ) which can be associated with sudden and intense licking, biting and severe self-mutilation of the feet, while proprioception, motor abilities and spinal reflexes remain intact. Affected puppies look smaller than their healthy littermates. Symptoms may be followed by further complications such as infections, ulceration, nail loss, swollen paws and fractures.
Gallbladder Mucocele ( GBM )
Gallbladder Mucocele is an abnormally distended gallbladder containing a build-up of luminal mucus leading to inflammation (cholecystitis) and possible rupture of the gallbladder. Symptoms include vomiting, jaundice, loss of appetite, lethargy, polyuria, polydipsia, and diarrhea. The trait of inheritance is autosomal dominant with incomplete penetrance, which means that only one copy of the mutation can put the dog at risk of developing the disease, however, not all dogs with one copy of the mutation have developed the disease.
Macrothrombocytopenia ( MTC – D )
Macrothrombocytopeniais inherited as an autosomal dominant trait characterized by low platelet count and the presence of some larger than normal platelets in circulation. Unlike acquired macrothrombocytopenia (thrombocytopenias secondary to infectious agents, medications, immune-mediated causes), this form does not respond to treatment.
It is important to note that these dogs may mistakenly be considered to have an underlying disease that results in thrombocytopenia, such as immune-mediated thrombocytopenia, tick-borne infection, or a bone marrow disorder. (TC ) is inherited as an autosomal dominant trait and results can be Clear (N/N), Affected heterozygous (N / MTC), Affected homozygous (MTC / MTC).
Degenerative Myelopathy ( DM (Exon 2)
Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia. Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years.
Hyperuricosuria / Urate Stones ( HUU, SLC )
Hyperuricosuria is characterized by elevated levels of uric acid in the urine. This disease predisposes dogs to form stones in their bladders or sometimes kidneys.
Malignant hyperthermia ( MH )
Malignant hyperthermia is an inherited disorder of skeletal muscle characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure, that develops on exposure to succinylcholine or volatile anaesthetic agents. Specific interventions, including use of the calcium release channel antagonist dantrolene, are efficacious in reversing signs of the canine syndrome.
Progressive Retinal Atrophy ( prcd-PRA )
Progressive Retinal Atrophy (PRA) is a group of diseases that cause the retina of the eye to degenerate slowly over time. The result is declining vision and eventual blindness, prcd stands for progressive rod-cone degeneration which is the type of PRA known in several breeds.
The genetic disorder, prcd-PRA , causes cells in the retina at the back of the eye to degenerate and die, even though the cells seem to develop normally early in life. The rod cells operate in low light levels and are the first to lose normal function. Night blindness results. Then the cone cells gradually lose their normal function in full light situations. Most affected dogs will eventually be blind.
Progressive Retinal Atrophy ( GR-PRA 1 & 2 )
GR-PRA 1 and GR-PRA 2 are two genetic forms of the Progressive Retinal Atrophy which are related to the Golden Retriever. For more info read the section above on Progressive Retinal Atrophy.
Ichtyyosis
A rare condition in which the outer layer of the skin and footpads thickens considerably. Affected dogs have rough skin covered with thick greasy flakes or scales and feet can become swollen and painful. Affected dogs are born with abnormal skin which worsens with age. Although the condition can be managed in some cases, chronic cases will find owners opting to end the dogs suffering.
Muscular Dystrophy ( MD )
Muscular Dystrophy (MD) is a spontaneous, X-linked, progressively fatal disease of dogs. Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy. Muscular Dystrophy (MD) is transmitted as an X-chromosomal recessive trait. This means that a dog can be genetically clear, heterozygous (carries one copy of the defective gene) or affected (carries two copies of the defective gene) concerning MD. Heterozygous male dogs and homozygous female dogs will get symptoms of this disease. Reliable information of dogs that do not carry disease genes (particularly female dogs) is the key to control this disease.
Malignant Hyperthermia ( MH )
Malignant Hyperthermia is an autosomal dominant genetic mutation that can cause a dog to have dangerous physical reactions in response to specific triggers. The triggers include exposure to certain drugs, most notably the inhaled anaesthetics like halothane, the ingestion of food ingredients such as caffeine and hops, and too much exercise. MH is also known as “canine stress syndrome” because the condition can become apparent when a dog is under stress or over-stimulated. After experiencing one or more of the triggers, an affected dog can have extreme muscle contractions, increased metabolism, rapid heartbeat and elevated body temperature. The body produces too much carbon dioxide and enters a hyper metabolic state. Muscles become rigid and stiff and seizures are a possibility. If a dog with the MH mutation undergoes anaesthesia using halothane or other types of inhaled anaesthesia, the results can be quickly fatal. However, there are some forms of anaesthesia that can be safely used to sedate dogs affected with MH. This is why it is important to identify dogs that have the mutation prior to scheduling surgical procedures. There is no cure for Malignant Hyperthermia, but dogs with this mutation can avoid stressful situations, intense exercise, and food and drugs that can trigger symptoms. The mutation is autosomal dominant; only one copy of the mutation is necessary to produce an affected pup.
Degenerative Myelopathy ( DM )
Degenerative myelopathy 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 faecal 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.
Hyperuricosuria ( HUU )
Hyperuricosuria means elevated levels of uric acid in the urine. This trait predisposes dogs to form stones in their bladders or sometimes kidneys. These stones often must be removed surgically and can be difficult to treat.